id
stringlengths 7
8
| tokens
sequence | ner_tags
sequence | texts
stringlengths 0
8.69k
|
---|---|---|---|
17234021 | [
"Surveillance",
"programs",
"are",
"recommended",
"to",
"both",
"families",
"at",
"high",
"risk",
"(Amsterdam-positive",
"families",
"with",
"known-",
"and",
"unknown",
"mutation",
")",
"and",
"moderate",
"risk",
"(families",
"not",
"fulfilling",
"all",
"Amsterdam",
"criteria)",
"of",
"colorectal",
"cancer",
"(CRC).",
"Cost-effectiveness",
"has",
"so",
"far",
"only",
"been",
"estimated",
"for",
"the",
"group",
"at",
"high",
"risk.",
"The",
"aim",
"of",
"the",
"present",
"study",
"is",
"to",
"determine",
"cost-effectiveness",
"of",
"surveillance",
"programs",
"where",
"families",
"at",
"both",
"high",
"and",
"moderate",
"risk",
"of",
"HNPCC",
"participate."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
9,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Surveillance programs are recommended to both families at high risk (Amsterdam-positive families with known- and unknown mutation ) and moderate risk (families not fulfilling all Amsterdam criteria) of colorectal cancer (CRC). Cost-effectiveness has so far only been estimated for the group at high risk. The aim of the present study is to determine cost-effectiveness of surveillance programs where families at both high and moderate risk of HNPCC participate. |
18097606 | [
"To",
"determine",
"the",
"effect",
"of",
"nitric",
"oxide",
"(NO)",
"on",
"the",
"cyclooxygenase-2",
"(COX-2)",
"regulation",
"in",
"colon",
"cancer",
"cell",
"lines",
"we",
"used",
"the",
"physiological",
"NO",
"donor",
"GSNO.",
"The",
"proximal",
"6.6",
"kb",
"of",
"the",
"COX-2",
"promoter",
"was",
"cloned",
"into",
"the",
"pGL3",
"basic",
"vector",
"and",
"the",
"sequential",
"deletion",
"of",
"the",
"6.6",
"kb",
"promoter",
" ",
"was",
"cloned",
"into",
"the",
"pGL3",
"basic",
"vector",
"and",
"the",
"sequential",
"deletion",
"of",
"the",
"6.6",
"kb",
"COX-2",
"promoter",
"generated",
"promoter",
"constructs",
"of",
"4,",
"2.6,",
"1.9",
"and",
"0.9",
"kb.",
"These",
"constructs",
"clearly",
"show",
"that",
"the",
"main",
"regulatory",
"region",
"lies",
"within",
"0.9",
"kb",
"of",
"the",
"transcription",
"start",
"site.",
"Therefore,",
"constructs",
"of",
"the",
"main",
"transcription",
"binding",
"sites",
"within",
"this",
"region",
"namely",
"CRE,",
"NF-IL6",
"and",
"NF-kappaB",
"and",
"mutations",
"of",
"these",
"sites",
"were",
"used",
"to",
"monitor",
"the",
"transcriptional",
"activation",
"of",
"COX-2.",
"This",
"study",
"was",
"performed",
"on",
"the",
"colon",
"cancer",
"cell",
"lines",
"HCA7",
"and",
"HCT116",
"which",
"have",
"a",
"differential",
"expression",
"of",
"COX-2.",
"There",
"was",
"no",
"evidence",
"that",
"the",
"luciferase",
"activity",
"is",
"negatively",
"affected",
"by",
"NO",
"as",
"was",
"previously",
"reported.",
"The",
"CRE",
"and",
"NF-IL6",
"promoter",
" ",
"generated",
"promoter",
"constructs",
"of",
"4,",
"2.6,",
"1.9",
"and",
"0.9",
"kb.",
"These",
"constructs",
"clearly",
"show",
"that",
"the",
"main",
"regulatory",
"region",
"lies",
"within",
"0.9",
"kb",
"of",
"the",
"transcription",
"start",
"site.",
"Therefore,",
"constructs",
"of",
"the",
"main",
"transcription",
"binding",
"sites",
"within",
"this",
"region",
"namely",
"CRE,",
"NF-IL6",
"and",
"NF-kappaB",
"and",
"mutations",
"of",
"these",
"sites",
"were",
"used",
"to",
"monitor",
"the",
"transcriptional",
"activation",
"of",
"COX-2.",
"This",
"study",
"was",
"performed",
"on",
"the",
"colon",
"cancer",
"cell",
"lines",
"HCA7",
"and",
"HCT116",
"which",
"have",
"a",
"differential",
"expression",
"of",
"COX-2.",
"There",
"was",
"no",
"evidence",
"that",
"the",
"luciferase",
"activity",
"is",
"negatively",
"affected",
"by",
"NO",
"as",
"was",
"previously",
"reported.",
"The",
"CRE",
"COX-2",
" ",
"promoter",
"was",
"cloned",
"into",
"the",
"pGL3",
"basic",
"vector",
"and",
"the",
"sequential",
"deletion",
"of",
"the",
"6.6",
"kb",
"COX-2",
"deletion",
" ",
"of",
"the",
"6.6",
"kb",
"COX-2",
"promoter",
"generated",
"promoter",
"constructs",
"of",
"4,",
"2.6,",
"1.9",
"and",
"0.9",
"kb.",
"These",
"constructs",
"clearly",
"show",
"that",
"the",
"main",
"regulatory",
"region",
"lies",
"within",
"0.9",
"kb",
"of",
"the",
"transcription",
"start",
"site.",
"Therefore,",
"constructs",
"of",
"the",
"main",
"transcription",
"binding",
"sites",
"within",
"this",
"region",
"namely",
"CRE,",
"NF-IL6",
"and",
"NF-kappaB",
"and",
"mutations",
" ",
"of",
"these",
"sites",
"were",
"used",
"to",
"monitor",
"the",
"transcriptional",
"activation",
"of",
"COX-2.",
"This",
"study",
"was",
"performed",
"on",
"the",
"colon",
"cancer",
"cell",
"lines",
"HCA7",
"and",
"HCT116",
"which",
"have",
"a",
"differential",
"expression",
"of",
"COX-2",
"COX-2",
".",
"This",
"study",
"was",
"performed",
"on",
"the",
"colon",
"cancer",
"cell",
"lines",
"HCA7",
"and",
"HCT116",
"which",
"have",
"a",
"differential",
"expression",
"of",
"COX-2.",
"There",
"was",
"no",
"evidence",
"that",
"the",
"luciferase",
"activity",
"is",
"negatively",
"affected",
"by",
"NO",
"as",
"was",
"previously",
"reported.",
"The",
"CRE",
"and",
"NF-IL6",
"binding",
"sites",
"within",
"this",
"region",
"were",
"responsible",
"for",
"the",
"constitutive",
"and",
"physiological",
"NO-induced",
"COX-2",
" ",
"transcriptional",
"activity",
"in",
"the",
"HCA7",
"and",
"HCT116",
"cells.",
"While",
"NF-kappaB",
"involvement",
"was",
"only",
"observed",
"in",
"the",
"HCT116",
"cells,",
"the",
"cell",
"lines",
"displayed",
"increased",
"NF-kappaB",
"NF-kappaB",
"COX-2",
" ",
"expression",
"by",
"nitric",
"oxide",
"in",
"colon",
"cancer",
"cell",
"lines."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
8,
7,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
7,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | To determine the effect of nitric oxide (NO) on the cyclooxygenase-2 (COX-2) regulation in colon cancer cell lines we used the physiological NO donor GSNO. The proximal 6.6 kb of the COX-2 promoter was cloned into the pGL3 basic vector and the sequential deletion of the 6.6 kb promoter was cloned into the pGL3 basic vector and the sequential deletion of the 6.6 kb COX-2 promoter generated promoter constructs of 4, 2.6, 1.9 and 0.9 kb. These constructs clearly show that the main regulatory region lies within 0.9 kb of the transcription start site. Therefore, constructs of the main transcription binding sites within this region namely CRE, NF-IL6 and NF-kappaB and mutations of these sites were used to monitor the transcriptional activation of COX-2. This study was performed on the colon cancer cell lines HCA7 and HCT116 which have a differential expression of COX-2. There was no evidence that the luciferase activity is negatively affected by NO as was previously reported. The CRE and NF-IL6 promoter generated promoter constructs of 4, 2.6, 1.9 and 0.9 kb. These constructs clearly show that the main regulatory region lies within 0.9 kb of the transcription start site. Therefore, constructs of the main transcription binding sites within this region namely CRE, NF-IL6 and NF-kappaB and mutations of these sites were used to monitor the transcriptional activation of COX-2. This study was performed on the colon cancer cell lines HCA7 and HCT116 which have a differential expression of COX-2. There was no evidence that the luciferase activity is negatively affected by NO as was previously reported. The CRE COX-2 promoter was cloned into the pGL3 basic vector and the sequential deletion of the 6.6 kb COX-2 deletion of the 6.6 kb COX-2 promoter generated promoter constructs of 4, 2.6, 1.9 and 0.9 kb. These constructs clearly show that the main regulatory region lies within 0.9 kb of the transcription start site. Therefore, constructs of the main transcription binding sites within this region namely CRE, NF-IL6 and NF-kappaB and mutations of these sites were used to monitor the transcriptional activation of COX-2. This study was performed on the colon cancer cell lines HCA7 and HCT116 which have a differential expression of COX-2 COX-2 . This study was performed on the colon cancer cell lines HCA7 and HCT116 which have a differential expression of COX-2. There was no evidence that the luciferase activity is negatively affected by NO as was previously reported. The CRE and NF-IL6 binding sites within this region were responsible for the constitutive and physiological NO-induced COX-2 transcriptional activity in the HCA7 and HCT116 cells. While NF-kappaB involvement was only observed in the HCT116 cells, the cell lines displayed increased NF-kappaB NF-kappaB COX-2 expression by nitric oxide in colon cancer cell lines. |
12534642 | [
"(i)",
"CYP1A2",
"polymorphisms",
"are",
"in",
"linkage",
"disequilibrium.",
"Therefore,",
"only",
"-164A-->C",
" ",
"(CYP1A2*1F)",
"and",
"-2464T-->delT",
"(CYP1A2*1D)",
"need",
"to",
"be",
"analysed",
"in",
"the",
"routine",
"assessment",
"of",
"CYP1A2",
"genotype;",
"(ii)",
"in",
"vivo",
"CYP1A2",
"activity",
"is",
"lower",
"in",
"colorectal",
"cancer",
"patients",
"than",
"in",
"controls,",
"and",
"(iii)",
"CYP1A2",
"genotype",
"had",
"no",
"effect",
"on",
"phenotype",
"(based",
"on",
"the",
"caffeine",
"metabolite",
"ratio).",
"However,",
"this",
"remains",
"to",
"be",
"confirmed",
"in",
"a",
"larger",
"study."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | (i) CYP1A2 polymorphisms are in linkage disequilibrium. Therefore, only -164A-->C (CYP1A2*1F) and -2464T-->delT (CYP1A2*1D) need to be analysed in the routine assessment of CYP1A2 genotype; (ii) in vivo CYP1A2 activity is lower in colorectal cancer patients than in controls, and (iii) CYP1A2 genotype had no effect on phenotype (based on the caffeine metabolite ratio). However, this remains to be confirmed in a larger study. |
23132392 | [
"The",
"frequency",
"of",
"MED12",
"exon",
"2",
"mutations",
"was",
"analysed",
"in",
"altogether",
"1158",
"tumours",
"by",
"direct",
"sequencing.",
"The",
"tumour",
"spectrum",
"included",
"mesenchymal",
"tumours",
"(extrauterine",
"leiomyomas,",
"endometrial",
"polyps,",
"lipomas,",
"uterine",
"leiomyosarcomas,",
"other",
"sarcomas,",
"gastro-intestinal",
"stromal",
"tumours),",
"hormone-dependent",
"tumours",
"(breast",
"and",
"ovarian",
"cancers),",
"haematological",
"malignancies",
"(acute",
"myeloid",
"leukaemias,",
"acute",
"lymphoid",
"leukaemias,",
"myeloproliferative",
"neoplasms),",
"and",
"tumours",
"associated",
"with",
"abnormal",
"Wnt-signalling",
"(colorectal",
"cancers",
"(CRC))."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | The frequency of MED12 exon 2 mutations was analysed in altogether 1158 tumours by direct sequencing. The tumour spectrum included mesenchymal tumours (extrauterine leiomyomas, endometrial polyps, lipomas, uterine leiomyosarcomas, other sarcomas, gastro-intestinal stromal tumours), hormone-dependent tumours (breast and ovarian cancers), haematological malignancies (acute myeloid leukaemias, acute lymphoid leukaemias, myeloproliferative neoplasms), and tumours associated with abnormal Wnt-signalling (colorectal cancers (CRC)). |
12530077 | [
"Mucin-1",
"is",
"expressed",
"in",
"a",
"variety",
"of",
"colon",
"carcinomas",
"and",
"Muc-1",
"Amplified",
" ",
"Muc1-specific",
"gene",
"expression",
"in",
"colon",
"cancer",
"cells",
"utilizing",
"a",
"binary",
"system",
"in",
"adenoviral",
"vectors."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
5,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Mucin-1 is expressed in a variety of colon carcinomas and Muc-1 Amplified Muc1-specific gene expression in colon cancer cells utilizing a binary system in adenoviral vectors. |
24435063 | [
"Three-fourths",
"of",
"participants",
"expressed",
"interest",
"in",
"SNP",
" ",
"testing",
"for",
"colorectal",
"cancer",
"risk.",
"Testing",
"interest",
"did",
"not",
"markedly",
"change",
"across",
"behavior",
"modifier",
"scenarios.",
"Participants",
"preferred",
"to",
"receive",
"genomic",
"risk",
"communications",
"from",
"a",
"variety",
"of",
"sources:",
"printed",
"materials",
"(69.5%),",
"oncologists",
"(54.8%),",
"primary-care",
"physicians",
"(58.4%),",
"and",
"the",
"web",
"(58.1%).",
"Overall,",
"persons",
"who",
"were",
"unmarried",
"(p",
"=",
"0.029),",
"younger",
"(p",
"=",
"0.003)",
"and",
"with",
"greater",
"cancer-related",
"fear",
"(p",
"=",
"0.019)",
"were",
"more",
"likely",
"to",
"express",
"interest",
"in",
"predictive",
"genomic",
"testing",
"for",
"colorectal",
"cancer",
"risk.",
"In",
"a",
"stratified",
"analysis,",
"cancer-related",
"fear",
"was",
"associated",
"with",
"the",
"interest",
"in",
"predictive",
"genomic",
"testing",
"in",
"the",
"intervention",
"group",
"(p",
"=",
"0.017),",
"but",
"not",
"the",
"control",
"group."
] | [
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Three-fourths of participants expressed interest in SNP testing for colorectal cancer risk. Testing interest did not markedly change across behavior modifier scenarios. Participants preferred to receive genomic risk communications from a variety of sources: printed materials (69.5%), oncologists (54.8%), primary-care physicians (58.4%), and the web (58.1%). Overall, persons who were unmarried (p = 0.029), younger (p = 0.003) and with greater cancer-related fear (p = 0.019) were more likely to express interest in predictive genomic testing for colorectal cancer risk. In a stratified analysis, cancer-related fear was associated with the interest in predictive genomic testing in the intervention group (p = 0.017), but not the control group. |
20196079 | [
"Recent",
"studies",
"have",
"suggested",
"that",
"APC",
" ",
"loss",
"alone",
"may",
"be",
"insufficient",
"to",
"promote",
"aberrant",
"Wnt/beta-catenin",
"signalling.",
"Our",
"aim",
"was",
"to",
"comprehensively",
"characterize",
"Wnt",
"signalling",
"components",
"in",
"a",
"set",
"of",
"APC",
"-associated",
"familial",
"adenomatous",
"polyposis",
"(FAP)",
"tumours.",
"Sixty",
"adenomas",
"from",
"six",
"FAP",
"patients",
"with",
"known",
"pathogenic",
"APC",
"KRAS",
" ",
"is",
"not",
"necessary",
"for",
"Wnt",
"signalling",
"activation",
"in",
"APC-associated",
"FAP",
"adenomas."
] | [
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Recent studies have suggested that APC loss alone may be insufficient to promote aberrant Wnt/beta-catenin signalling. Our aim was to comprehensively characterize Wnt signalling components in a set of APC -associated familial adenomatous polyposis (FAP) tumours. Sixty adenomas from six FAP patients with known pathogenic APC KRAS is not necessary for Wnt signalling activation in APC-associated FAP adenomas. |
26446363 | [
"Co-occurrence",
"of",
"nonsense",
"mutations",
"in",
"MSH6",
"and",
"MSH2",
"in",
"Lynch",
"syndrome",
"families",
"evidencing",
"that",
"not",
"all",
"truncating",
"mutations",
"are",
"equal."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Co-occurrence of nonsense mutations in MSH6 and MSH2 in Lynch syndrome families evidencing that not all truncating mutations are equal. |
22895193 | [] | [] | |
8187091 | [
"Characteristics",
"of",
"somatic",
"mutation",
"of",
"the",
"adenomatous",
"polyposis",
"coli",
"gene",
"in",
"colorectal",
"tumors."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. |
7557155 | [
"DNA",
"mismatch",
"repair",
"and",
"cancer."
] | [
0,
0,
0,
0,
0
] | DNA mismatch repair and cancer. |
27070770 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
8431846 | [
"##",
"CONCLUSIONS"
] | [
0,
0
] | ## CONCLUSIONS |
9841584 | [
"Benefits",
"of",
"colonoscopic",
"surveillance",
"and",
"prophylactic",
"colectomy",
"in",
"patients",
"with",
"hereditary",
"nonpolyposis",
"colorectal",
"cancer",
"mutations.",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations.
## BACKGROUND |
23497483 | [
"##",
"CONCLUSIONS"
] | [
0,
0
] | ## CONCLUSIONS |
9476377 | [
"From",
"seven",
"different",
"mutations",
"found,",
"4",
"mutations",
"have",
"been",
"previously",
"described",
"(mutations",
"in",
"codons",
"935,",
"1061,",
"1309",
"and",
"1554),",
"3",
"mutations",
"in",
"the",
"APC",
"gene",
"are",
"described",
"here",
"for",
"the",
"first",
"time,",
"namely",
"the",
"mutations",
"in",
"codons",
"712,",
"759",
"mutations",
"APC",
"exon",
"15",
" ",
"of",
"the",
"APC",
"gene].",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
3,
1,
7,
8,
0,
0,
0,
0,
0,
0,
0,
0
] | From seven different mutations found, 4 mutations have been previously described (mutations in codons 935, 1061, 1309 and 1554), 3 mutations in the APC gene are described here for the first time, namely the mutations in codons 712, 759 mutations APC exon 15 of the APC gene].
## BACKGROUND |
22810479 | [
":",
"The",
"heterogeneity",
"in",
"the",
"study",
"populations",
"is",
"a",
"potential",
"problem,",
"the",
"use",
"of",
"different",
"staging",
"systems",
"or",
"small",
"groups",
"of",
"different",
"stages",
"may",
"contribute",
"to",
"heterogeneity,",
"and",
"residual",
"confounding",
"may",
"have",
"influenced",
"the",
"results",
"in",
"those",
"studies",
"that",
"did",
"not",
"completely",
"adjust",
"for",
"other",
"factors."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | : The heterogeneity in the study populations is a potential problem, the use of different staging systems or small groups of different stages may contribute to heterogeneity, and residual confounding may have influenced the results in those studies that did not completely adjust for other factors. |
18184403 | [] | [] | |
9841584 | [
"##",
"INTERVENTIONS"
] | [
0,
0
] | ## INTERVENTIONS |
26302849 | [
"We",
"genotyped",
"seven",
"single",
"nucleotide",
"polymorphisms",
"(",
"SNPs",
")",
"from",
"seven",
"genes.",
"We",
"selected",
"588",
"patients",
"with",
"gastric",
"cancer",
"and",
"449",
"with",
"colorectal",
"cancer,",
"along",
"with",
"703",
"healthy",
"controls.",
"All",
"these",
"SNPs",
"Polymorphisms",
" ",
"of",
"PRLHR",
"and",
"HSPA12A",
"and",
"risk",
"of",
"gastric",
"and",
"colorectal",
"cancer",
"in",
"the",
"Chinese",
"Han",
"population.",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | We genotyped seven single nucleotide polymorphisms ( SNPs ) from seven genes. We selected 588 patients with gastric cancer and 449 with colorectal cancer, along with 703 healthy controls. All these SNPs Polymorphisms of PRLHR and HSPA12A and risk of gastric and colorectal cancer in the Chinese Han population.
## BACKGROUND |
20198339 | [
"MUC2",
"is",
"a",
"major",
"secretory",
"mucin",
"normally",
"expressed",
"by",
"goblet",
"cells",
"of",
"the",
"intestine,",
"but",
"is",
"aberrantly",
"expressed",
"in",
"colonic",
"neoplasia.",
"Bile",
"acids",
"have",
"been",
"implicated",
"in",
"colorectal",
"carcinogenesis",
"and,",
"therefore,",
"we",
"sought",
"to",
"determine",
"the",
"effects",
"of",
"bile",
"acids",
"on",
"MUC2",
"expression",
"and",
"regulation",
"in",
"colon",
"cancer",
"cells.",
"Since",
"deoxycholic",
"acid",
"(DCA),",
"a",
"secondary",
"bile",
"acid,",
"has",
"been",
"reported",
"to",
"be",
"a",
"potent",
"mucin",
"secretagogue",
"and",
"tumor",
"promoter,",
"DCA-treated",
"HM3",
"colon",
"cancer",
"cells",
"were",
"analyzed",
"using",
"promoter-reporter",
"assays",
"of",
"the",
"5'",
"flanking",
"region",
"of",
"the",
"MUC2",
"gene.",
"Chemical",
"inhibitors,",
"mutant",
"reporter",
"constructs",
"and",
"EMSA",
"showed",
"that",
"DCA",
"upregulates",
"MUC2",
"transcription",
"via",
"multiple",
"pathways",
"involving",
"activation",
"of",
"EGFR/PKC/Ras/Raf-1/MEK1/ERK/CREB,",
"PI3/Akt/IkappaB/NF-kappaB",
"and",
"p38/MSK1/CREB",
"while",
"DCA",
"induced",
"MUC2",
"transcription",
"is",
"inhibited",
"by",
"JNK/c-Jun/",
"AP-1",
"MUC2",
" ",
"gene.",
"Chemical",
"inhibitors,",
"mutant",
"reporter",
"constructs",
"and",
"EMSA",
"showed",
"that",
"DCA",
"upregulates",
"MUC2",
"transcription",
"via",
"multiple",
"pathways",
"involving",
"activation",
"of",
"EGFR",
"MUC2",
" ",
"transcription",
"via",
"multiple",
"pathways",
"involving",
"activation",
"of",
"EGFR/PKC/",
"Ras",
"PKC",
"/Ras/Raf-1/",
"MEK1",
"Raf-1",
"/MEK1/ERK/",
"CREB",
",",
"PI3/Akt/IkappaB/NF-kappaB",
"and",
"p38/MSK1/CREB",
"while",
"DCA",
"induced",
"MUC2",
"transcription",
"is",
"inhibited",
"by",
"JNK",
"ERK",
"/CREB,",
"PI3/Akt/IkappaB/NF-kappaB",
"and",
"p38/MSK1/CREB",
"while",
"DCA",
"induced",
"MUC2",
"c-Jun",
"EGFR",
"/PKC/Ras/ERK/CREB,",
"PI3K/Akt/IkappaB/NF-kappaB",
"and",
"p38/MSK1/CREB",
"pathways",
"and",
"negative",
"JNK/c-Jun/AP-1",
"pathway."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
1,
1,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
1,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | MUC2 is a major secretory mucin normally expressed by goblet cells of the intestine, but is aberrantly expressed in colonic neoplasia. Bile acids have been implicated in colorectal carcinogenesis and, therefore, we sought to determine the effects of bile acids on MUC2 expression and regulation in colon cancer cells. Since deoxycholic acid (DCA), a secondary bile acid, has been reported to be a potent mucin secretagogue and tumor promoter, DCA-treated HM3 colon cancer cells were analyzed using promoter-reporter assays of the 5' flanking region of the MUC2 gene. Chemical inhibitors, mutant reporter constructs and EMSA showed that DCA upregulates MUC2 transcription via multiple pathways involving activation of EGFR/PKC/Ras/Raf-1/MEK1/ERK/CREB, PI3/Akt/IkappaB/NF-kappaB and p38/MSK1/CREB while DCA induced MUC2 transcription is inhibited by JNK/c-Jun/ AP-1 MUC2 gene. Chemical inhibitors, mutant reporter constructs and EMSA showed that DCA upregulates MUC2 transcription via multiple pathways involving activation of EGFR MUC2 transcription via multiple pathways involving activation of EGFR/PKC/ Ras PKC /Ras/Raf-1/ MEK1 Raf-1 /MEK1/ERK/ CREB , PI3/Akt/IkappaB/NF-kappaB and p38/MSK1/CREB while DCA induced MUC2 transcription is inhibited by JNK ERK /CREB, PI3/Akt/IkappaB/NF-kappaB and p38/MSK1/CREB while DCA induced MUC2 c-Jun EGFR /PKC/Ras/ERK/CREB, PI3K/Akt/IkappaB/NF-kappaB and p38/MSK1/CREB pathways and negative JNK/c-Jun/AP-1 pathway. |
7557155 | [] | [] | |
8431846 | [
"##",
"PATIENTS",
"AND",
"RESULTS"
] | [
0,
0,
0,
0
] | ## PATIENTS AND RESULTS |
14734469 | [
"We",
"analyzed",
"BRAF",
"mutations",
"in",
"26",
"colorectal",
"cancer",
"cell",
"lines,",
"80",
"sporadic",
"colorectal",
"cancers,",
"and",
"20",
"tumors",
"from",
"HNPCC",
"patients",
"by",
"DNA",
"sequencing",
"and",
"sequence-specific",
"PCR.",
"The",
"methylation",
"status",
"of",
"the",
"hMLH1",
"gene",
"was",
"measured",
"by",
"either",
"sequencing",
"or",
"restriction",
"enzyme",
"digestion",
"after",
"NaHSO(3)",
"treatment."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | We analyzed BRAF mutations in 26 colorectal cancer cell lines, 80 sporadic colorectal cancers, and 20 tumors from HNPCC patients by DNA sequencing and sequence-specific PCR. The methylation status of the hMLH1 gene was measured by either sequencing or restriction enzyme digestion after NaHSO(3) treatment. |
22575968 | [] | [] | |
22810479 | [
"##",
"DATA",
"SOURCES"
] | [
0,
0,
0
] | ## DATA SOURCES |
26416897 | [
"We",
"analyzed",
"genomic",
"DNA",
"extracted",
"from",
"samples",
"of",
"patients",
"receiving",
"bevacizumab",
"plus",
"FOLFIRI",
"as",
"a",
"first-line",
"treatment",
"using",
"PCR-based",
"direct",
"sequencing.",
"Twelve",
"functional",
"single-nucleotide",
"polymorphisms",
"in",
"eight",
"genes",
"(CCL2,",
"CCR2,",
"HRG,",
"PIGF,",
"NFKB1,",
"TBK1,",
"CCL18,",
"and",
"IRF3)",
"were",
"tested",
"for",
"associations",
"with",
"clinical",
"outcomes",
"in",
"a",
"discovery",
"cohort",
"of",
"228",
"participants",
"in",
"TRIBE",
"trial",
"(NCT00719797),",
"then",
"validated",
"in",
"248",
"KRAS",
"exon2",
"(KRAS)",
"wild-type",
"participants",
"in",
"FIRE3",
"trial",
"(NCT00433927).",
"FIRE3-cetuximab",
"cohort",
"served",
"as",
"a",
"negative",
"control."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | We analyzed genomic DNA extracted from samples of patients receiving bevacizumab plus FOLFIRI as a first-line treatment using PCR-based direct sequencing. Twelve functional single-nucleotide polymorphisms in eight genes (CCL2, CCR2, HRG, PIGF, NFKB1, TBK1, CCL18, and IRF3) were tested for associations with clinical outcomes in a discovery cohort of 228 participants in TRIBE trial (NCT00719797), then validated in 248 KRAS exon2 (KRAS) wild-type participants in FIRE3 trial (NCT00433927). FIRE3-cetuximab cohort served as a negative control. |
25029911 | [
"We",
"defined",
"the",
"minimal",
"promoter",
"of",
"NGX6",
"gene",
"in",
"a",
"186-bp",
"region",
"(from-86",
"to",
"+100)",
"through",
"mutation",
"construct",
"methods",
"and",
"luciferase",
"assays.",
"Results",
"from",
"Electrophoretic",
"mobility",
"shift",
"assays",
"(EMSA)",
"and",
"Chromatin",
"immunoprecipitation",
"(ChIP)",
"revealed",
"that",
"Early",
"growth",
"response",
"gene",
"1",
"(Egr-1)",
"binds",
"to",
"the",
"Sp1/Egr-1",
"overlapping",
"site",
"of",
"NGX6",
"minimal",
"promoter.",
"Overexpression",
"of",
"Egr-1",
"increased",
"the",
"promoter",
"activity",
"and",
"mRNA",
"level",
"of",
"NGX6",
"gene;",
"while",
"knock-down",
"of",
"endogenous",
"Egr-1",
"Egr-1",
"-86",
"to",
"+100",
")",
"through",
"mutation",
"construct",
"methods",
"and",
"luciferase",
"assays.",
"Results",
"from",
"Electrophoretic",
"mobility",
"shift",
"assays",
"(EMSA)",
"and",
"Chromatin",
"immunoprecipitation",
"(ChIP)",
"revealed",
"that",
"Early",
"growth",
"response",
"gene",
"1",
"(Egr-1)",
"binds",
"to",
"the",
"Sp1/Egr-1",
"overlapping",
"site",
"of",
"NGX6",
"minimal",
"promoter.",
"Overexpression",
"of",
"Egr-1",
"increased",
"the",
"promoter",
"activity",
"and",
"mRNA",
"level",
"of",
"NGX6",
" ",
"gene;",
"while",
"knock-down",
"of",
"endogenous",
"Egr-1",
"decreased",
"mRNA",
"expression",
"of",
"NGX6",
"Sp1",
"/Egr-1",
"overlapping",
"site",
"in",
"the",
"promoter.",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
7,
8,
8,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | We defined the minimal promoter of NGX6 gene in a 186-bp region (from-86 to +100) through mutation construct methods and luciferase assays. Results from Electrophoretic mobility shift assays (EMSA) and Chromatin immunoprecipitation (ChIP) revealed that Early growth response gene 1 (Egr-1) binds to the Sp1/Egr-1 overlapping site of NGX6 minimal promoter. Overexpression of Egr-1 increased the promoter activity and mRNA level of NGX6 gene; while knock-down of endogenous Egr-1 Egr-1 -86 to +100 ) through mutation construct methods and luciferase assays. Results from Electrophoretic mobility shift assays (EMSA) and Chromatin immunoprecipitation (ChIP) revealed that Early growth response gene 1 (Egr-1) binds to the Sp1/Egr-1 overlapping site of NGX6 minimal promoter. Overexpression of Egr-1 increased the promoter activity and mRNA level of NGX6 gene; while knock-down of endogenous Egr-1 decreased mRNA expression of NGX6 Sp1 /Egr-1 overlapping site in the promoter.
## BACKGROUND |
25029911 | [
"##",
"CONCLUSION"
] | [
0,
0
] | ## CONCLUSION |
17454882 | [] | [] | |
21479914 | [
"Variation",
"in",
"the",
"CYP19A1",
"gene",
"and",
"risk",
"of",
"colon",
"and",
"rectal",
"cancer."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Variation in the CYP19A1 gene and risk of colon and rectal cancer. |
22899730 | [
"##",
"METHODS"
] | [
0,
0
] | ## METHODS |
8709782 | [
"Molecular",
"genetic",
"tests",
"as",
"a",
"guide",
"to",
"surgical",
"management",
"of",
"familial",
"adenomatous",
"polyposis.",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis.
## BACKGROUND |
22899730 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
26416897 | [
"TBK1",
"rs7486100",
"TBK1",
" ",
"rs7486100",
"was",
"significantly",
"associated",
"with",
"overall",
"survival",
"in",
"95",
"KRAS",
" ",
"wild-type",
"patients",
"of",
"TRIBE",
"cohort",
"in",
"univariate",
"analysis",
"and",
"had",
"a",
"strong",
"trend",
"in",
"multivariable",
"analysis;",
"furthermore,",
"the",
"association",
"of",
"the",
"T",
"allele",
"was",
"observed",
"for",
"progression-free",
"survival",
"(PFS)",
"in",
"both",
"univariate",
"and",
"multivariable",
"analyses",
"in",
"FIRE3-bevacizumab",
"but",
"not",
"cetuximab",
"cohort.",
"CCL2",
"rs4586,",
"CCL18",
"CCL2",
"TBK1",
",",
"which",
"can",
"influence",
"tumor",
"progression",
"by",
"secretion",
"of",
"proangiogenic",
"factors",
"such",
"as",
"vascular",
"endothelial",
"growth",
"factor.",
"The",
"CCL2",
"/CCR2",
"axis,",
"histidine-rich",
"glycoprotein",
"(HRG),",
"and",
"placenta",
"growth",
"factor",
"(PIGF)",
"play",
"a",
"critical",
"role",
"in",
"the",
"polarization",
"of",
"M1/M2",
"phenotypes",
"and",
"the",
"recruitment",
"of",
"TAMs",
"to",
"tumor",
"microenvironment.",
"We",
"therefore",
"hypothesized",
"that",
"variations",
"in",
"genes",
"involved",
"in",
"regulating",
"TAMs",
"may",
"predict",
"clinical",
"outcomes",
"of",
"bevacizumab",
"treatment",
"in",
"patients",
"with",
"metastatic",
"colorectal",
"cancer",
"(mCRC)."
] | [
0,
11,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | TBK1 rs7486100 TBK1 rs7486100 was significantly associated with overall survival in 95 KRAS wild-type patients of TRIBE cohort in univariate analysis and had a strong trend in multivariable analysis; furthermore, the association of the T allele was observed for progression-free survival (PFS) in both univariate and multivariable analyses in FIRE3-bevacizumab but not cetuximab cohort. CCL2 rs4586, CCL18 CCL2 TBK1 , which can influence tumor progression by secretion of proangiogenic factors such as vascular endothelial growth factor. The CCL2 /CCR2 axis, histidine-rich glycoprotein (HRG), and placenta growth factor (PIGF) play a critical role in the polarization of M1/M2 phenotypes and the recruitment of TAMs to tumor microenvironment. We therefore hypothesized that variations in genes involved in regulating TAMs may predict clinical outcomes of bevacizumab treatment in patients with metastatic colorectal cancer (mCRC). |
17389618 | [
"Twenty-four",
"non-synonymous",
"polymorphisms",
"in",
"the",
"one-carbon",
"metabolic",
"pathway",
"and",
"risk",
"of",
"colorectal",
"adenoma",
"in",
"the",
"Nurses'",
"Health",
"Study."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study. |
9691992 | [
"Microsatellite",
"instability",
"of",
"DNA",
"samples",
"of",
"79",
"sporadic",
"colon",
"cancer",
"patients",
"were",
"analyzed.",
"These",
"samples",
"were",
"also",
"screened",
"to",
"search",
"mutations",
"in",
"the",
"repeat",
"sequences",
"in",
"the",
"gene",
"for",
"the",
"type",
"II",
"receptor",
"of",
"transforming",
"growth",
"factor-beta",
"(TGF-beta",
"RII)",
"using",
"polymerase",
"chain",
"reaction",
"(PCR),",
"electrophoresis",
"with",
"urea",
"gel,",
"and",
"PCR-single",
"strand",
"conformation",
"polymorphism",
"(PCR-SSCP)",
"method.",
"The",
"incidence",
"of",
"microsatellite",
"instability",
"TGF-beta",
"RII",
")",
"using",
"polymerase",
"chain",
"reaction",
"(PCR),",
"electrophoresis",
"with",
"urea",
"gel,",
"and",
"PCR-single",
"strand",
"conformation",
"polymorphism",
"(PCR-SSCP)",
"method.",
"The",
"incidence",
"of",
"microsatellite",
"instability,",
"defined",
"as",
"severe",
"replication",
"error",
"phenotype",
"(RER)",
"with",
"microsatellite",
"alterations",
"in",
"more",
"than",
"three",
"loci,",
"was",
"6%.",
"Deletion",
"and",
"insertion",
"of",
"an",
"A",
"residue",
"in",
"the",
"(A)10",
"region,",
"which",
"cause",
"frameshift",
"mutation,",
"were",
"found",
"in",
"four",
"samples",
"and",
"their",
"incidence",
"in",
"the",
"samples",
"with",
"microsatellite",
"instability",
"was",
"80%.",
"A",
"novel",
"nucleotide",
"substitution",
"of",
"T",
"for",
"G",
"at",
"1918,",
"which",
"causes",
"missense",
"mutation",
"of",
"arginine",
"to",
"leucine",
"at",
"codon",
"528,",
"was",
"found",
"in",
"a",
"sample",
"with",
"microsatellite",
"instability",
"microsatellite",
"alterations",
" ",
"in",
"more",
"than",
"three",
"loci,",
"was",
"6%.",
"Deletion",
"and",
"insertion",
"of",
"an",
"A",
"residue",
"in",
"the",
"(A)10",
"region,",
"which",
"cause",
"frameshift",
"mutation",
",",
"were",
"found",
"in",
"four",
"samples",
"and",
"their",
"incidence",
"in",
"the",
"samples",
"with",
"microsatellite",
"instability",
"was",
"80%.",
"A",
"novel",
"nucleotide",
"substitution",
"of",
"T",
"for",
"G",
"at",
"1918,",
"which",
"causes",
"missense",
"mutation",
"of",
"arginine",
"to",
"leucine",
"at",
"codon",
"528",
"microsatellite",
"instability",
" ",
"was",
"80%.",
"A",
"novel",
"nucleotide",
"substitution",
"of",
"T",
"for",
"G",
"at",
"1918,",
"which",
"causes",
"missense",
"mutation",
"of",
"arginine",
"to",
"leucine",
"missense",
"mutation",
"mutations",
" ",
"in",
"the",
"repeat",
"sequences",
"in",
"the",
"gene",
"for",
"the",
"type",
"II",
"receptor",
"of",
"transforming",
"growth",
"factor-beta",
"(TGF-beta",
"RII)",
"using",
"polymerase",
"chain",
"reaction",
"(PCR),",
"electrophoresis",
"with",
"urea",
"gel,",
"and",
"PCR-single",
"strand",
"conformation",
"polymorphism",
"(PCR-SSCP)",
"method.",
"The",
"incidence",
"of",
"microsatellite",
"instability,",
"defined",
"as",
"severe",
"replication",
"error",
"phenotype",
"(RER)",
"with",
"microsatellite",
"alterations",
"in",
"more",
"than",
"three",
"loci,",
"was",
"6%.",
"Deletion",
" ",
"and",
"insertion",
" ",
"of",
"an",
"A",
"residue",
"in",
"the",
"(A)10",
"region",
",",
"which",
"cause",
"frameshift",
"mutation,",
"were",
"found",
"in",
"four",
"samples",
"and",
"their",
"incidence",
"in",
"the",
"samples",
"with",
"microsatellite",
"instability",
"was",
"80%.",
"A",
"novel",
"nucleotide",
"substitution",
"of",
"T",
"for",
"G",
"at",
"1918",
",",
"which",
"causes",
"missense",
"mutation",
"of",
"arginine",
"to",
"leucine",
"at",
"codon",
"528,",
"was",
"found",
"in",
"a",
"sample",
"with",
"microsatellite",
"instability.",
"The",
"mutation",
"at",
"1918",
"mutation",
"missense",
"mutation",
" ",
"and",
"frameshift",
"mutations",
" ",
"in",
"the",
"type",
"II",
"receptor",
"of",
"transforming",
"growth",
"factor-beta",
" ",
"gene",
"in",
"sporadic",
"colon",
"cancer",
"with",
"microsatellite",
"instability."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
4,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
4,
3,
4,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
4,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
8,
3,
4,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
13,
14,
14,
3,
4,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
7,
8,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
3,
3,
4,
0,
0,
3,
4,
0,
0,
0,
1,
2,
2,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Microsatellite instability of DNA samples of 79 sporadic colon cancer patients were analyzed. These samples were also screened to search mutations in the repeat sequences in the gene for the type II receptor of transforming growth factor-beta (TGF-beta RII) using polymerase chain reaction (PCR), electrophoresis with urea gel, and PCR-single strand conformation polymorphism (PCR-SSCP) method. The incidence of microsatellite instability TGF-beta RII ) using polymerase chain reaction (PCR), electrophoresis with urea gel, and PCR-single strand conformation polymorphism (PCR-SSCP) method. The incidence of microsatellite instability, defined as severe replication error phenotype (RER) with microsatellite alterations in more than three loci, was 6%. Deletion and insertion of an A residue in the (A)10 region, which cause frameshift mutation, were found in four samples and their incidence in the samples with microsatellite instability was 80%. A novel nucleotide substitution of T for G at 1918, which causes missense mutation of arginine to leucine at codon 528, was found in a sample with microsatellite instability microsatellite alterations in more than three loci, was 6%. Deletion and insertion of an A residue in the (A)10 region, which cause frameshift mutation , were found in four samples and their incidence in the samples with microsatellite instability was 80%. A novel nucleotide substitution of T for G at 1918, which causes missense mutation of arginine to leucine at codon 528 microsatellite instability was 80%. A novel nucleotide substitution of T for G at 1918, which causes missense mutation of arginine to leucine missense mutation mutations in the repeat sequences in the gene for the type II receptor of transforming growth factor-beta (TGF-beta RII) using polymerase chain reaction (PCR), electrophoresis with urea gel, and PCR-single strand conformation polymorphism (PCR-SSCP) method. The incidence of microsatellite instability, defined as severe replication error phenotype (RER) with microsatellite alterations in more than three loci, was 6%. Deletion and insertion of an A residue in the (A)10 region , which cause frameshift mutation, were found in four samples and their incidence in the samples with microsatellite instability was 80%. A novel nucleotide substitution of T for G at 1918 , which causes missense mutation of arginine to leucine at codon 528, was found in a sample with microsatellite instability. The mutation at 1918 mutation missense mutation and frameshift mutations in the type II receptor of transforming growth factor-beta gene in sporadic colon cancer with microsatellite instability. |
26925673 | [
"The",
"results",
"of",
"the",
"present",
"study",
"revealed",
"that",
"EA",
"exerts",
"anti-proliferative",
"and",
"dose-dependent",
"pro-apoptotic",
"effects.",
"Cytostatic",
"and",
"cytotoxic",
"effects",
"were",
"also",
"observed.",
"p-Akt",
"(at",
"Thr308",
"and",
"Ser473)",
"was",
"downregulated.",
"Moreover,",
"EA",
"treatment",
"was",
"found",
"to",
"(i)",
"reduce",
"K-Ras",
"protein",
"expression;",
"(ii)",
"in",
"cells",
"transfected",
"with",
"siRNA",
"and",
"co-treated",
"with",
"EA,",
"pronounced",
"anti-proliferative",
"effects",
"as",
"well",
"as",
"depletion",
"of",
"p-",
"Akt",
" ",
"(at",
"Thr308",
")",
"were",
"detected."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
7,
0,
0,
0
] | The results of the present study revealed that EA exerts anti-proliferative and dose-dependent pro-apoptotic effects. Cytostatic and cytotoxic effects were also observed. p-Akt (at Thr308 and Ser473) was downregulated. Moreover, EA treatment was found to (i) reduce K-Ras protein expression; (ii) in cells transfected with siRNA and co-treated with EA, pronounced anti-proliferative effects as well as depletion of p- Akt (at Thr308 ) were detected. |
17096342 | [
"Disease",
"expression",
"in",
"hereditary",
"nonpolyposis",
"colorectal",
"cancer",
"(HNPCC)",
"cannot",
"be",
"readily",
"explained",
"by",
"mutation",
"site",
"in",
"the",
"respective",
"DNA",
"mismatch",
"repair",
"genes",
"associated",
"with",
"this",
"disorder.",
"One",
"explanation",
"is",
"the",
"role",
"of",
"modifying",
"genes",
"that",
"can",
"either",
"promote",
"or",
"prevent",
"disease",
"development",
"on",
"a",
"background",
"of",
"increased",
"risk.",
"Two",
"single",
"nucleotide",
"polymorphisms",
"in",
"MDM2",
"and",
"TP53",
"have",
"been",
"shown",
"to",
"be",
"associated",
"with",
"younger",
"ages",
"of",
"disease",
"onset",
"in",
"HNPCC",
"(TP53)",
"and",
"Li-Fraumeni",
"syndrome",
"(MDM2).",
"In",
"this",
"study",
"220",
"HNPCC",
"patients",
"were",
"examined,",
"from",
"Australia",
"and",
"Poland,",
"all",
"characterized",
"at",
"the",
"molecular",
"level",
"to",
"determine",
"the",
"frequency",
"of",
"the",
"MDM2",
"SNP309",
"T>G",
"and",
"to",
"assess",
"its",
"influence",
"on",
"disease",
"expression.",
"The",
"results",
"were",
"then",
"pooled",
"with",
"the",
"results",
"of",
"a",
"previous",
"study",
"to",
"assess",
"the",
"combined",
"influence",
"of",
"the",
"MDM2",
"SNP309",
"T>G",
"and",
"TP53",
"SNP",
"R72P.",
"A",
"significant",
"difference",
"was",
"observed",
"between",
"CRC",
"patients",
"and",
"unaffected",
"MMR",
"gene",
"mutation",
"carriers",
"over",
"the",
"age",
"of",
"45",
"years",
"(p",
"=",
"0.01).",
"The",
"unaffected",
"MMR",
"gene",
"mutation",
"carriers",
"over",
"the",
"age",
"of",
"45",
"years",
"who",
"carry",
"the",
"G",
"allele",
"have",
"a",
"reduced",
"risk",
"of",
"developing",
"CRC.",
"The",
"results",
"indicate",
"that",
"the",
"MDM2",
"SNP309,",
"alone",
"or",
"in",
"combination",
"with",
"TP53",
"R72P,",
"does",
"not",
"influence",
"age",
"of",
"diagnosis",
"of",
"CRC",
"in",
"individuals",
"with",
"HNPCC.",
"In",
"conclusion,",
"the",
"data",
"indicates",
"the",
"G",
"allele",
"of",
"MDM2",
"SNP309",
"might",
"have",
"a",
"protective",
"effect",
"on",
"disease",
"development",
"in",
"HNPCC",
"patients",
"and",
"that",
"age",
"of",
"diagnosis",
"of",
"CRC",
"is",
"not",
"associated",
"with",
"MDM2",
"SNP309",
"or",
"TP53",
"R72P",
"R72P",
"TP53",
"R72P",
" ",
"polymorphism",
"does",
"not",
"appear",
"to",
"influence",
"disease",
"expression",
"and",
"age",
"of",
"diagnosis",
"of",
"colorectal",
"cancer",
"in",
"HNPCC",
"patients."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
13,
13,
1,
13,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Disease expression in hereditary nonpolyposis colorectal cancer (HNPCC) cannot be readily explained by mutation site in the respective DNA mismatch repair genes associated with this disorder. One explanation is the role of modifying genes that can either promote or prevent disease development on a background of increased risk. Two single nucleotide polymorphisms in MDM2 and TP53 have been shown to be associated with younger ages of disease onset in HNPCC (TP53) and Li-Fraumeni syndrome (MDM2). In this study 220 HNPCC patients were examined, from Australia and Poland, all characterized at the molecular level to determine the frequency of the MDM2 SNP309 T>G and to assess its influence on disease expression. The results were then pooled with the results of a previous study to assess the combined influence of the MDM2 SNP309 T>G and TP53 SNP R72P. A significant difference was observed between CRC patients and unaffected MMR gene mutation carriers over the age of 45 years (p = 0.01). The unaffected MMR gene mutation carriers over the age of 45 years who carry the G allele have a reduced risk of developing CRC. The results indicate that the MDM2 SNP309, alone or in combination with TP53 R72P, does not influence age of diagnosis of CRC in individuals with HNPCC. In conclusion, the data indicates the G allele of MDM2 SNP309 might have a protective effect on disease development in HNPCC patients and that age of diagnosis of CRC is not associated with MDM2 SNP309 or TP53 R72P R72P TP53 R72P polymorphism does not appear to influence disease expression and age of diagnosis of colorectal cancer in HNPCC patients. |
14645426 | [
"To",
"determine",
"the",
"frequency",
"of",
"mismatch",
"repair",
"(MMR)",
"gene",
"germline",
"mutations",
"in",
"endometrial",
"cancer",
"patients",
"who",
"were",
"diagnosed",
"at",
"less",
"than",
"50",
"years",
"of",
"age;",
"to",
"relate",
"the",
"presence",
"of",
"mutations",
"to",
"family",
"history,",
"histopathologic",
"data,",
"presence",
"of",
"tumor",
"microsatellite",
"instability",
" ",
"(",
"MSI",
"),",
"and",
"immunostaining;",
"and",
"to",
"formulate",
"criteria",
"for",
"genetic",
"testing",
"in",
"these",
"patients."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
4,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | To determine the frequency of mismatch repair (MMR) gene germline mutations in endometrial cancer patients who were diagnosed at less than 50 years of age; to relate the presence of mutations to family history, histopathologic data, presence of tumor microsatellite instability ( MSI ), and immunostaining; and to formulate criteria for genetic testing in these patients. |
1299227 | [] | [] | |
17389618 | [
"Dietary",
"folate",
"and",
"alcohol",
"consumption",
"as",
"well",
"as",
"polymorphic",
"variants",
"in",
"one-carbon",
"metabolism",
"genes",
"may",
"modulate",
"risk",
"of",
"colorectal",
"adenoma",
"through",
"aberrant",
"DNA",
"methylation",
" ",
"and",
"altered",
"nucleotide",
"synthesis",
"and",
"repair.",
"We",
"assessed",
"the",
"association",
"of",
"24",
"non-synonymous",
"single",
"nucleotide",
"polymorphisms",
"(",
"nsSNPs",
")",
"in",
"13",
"genes",
"in",
"the",
"one-carbon",
"metabolism",
"pathway",
"and",
"risk",
"of",
"colorectal",
"adenoma",
"in",
"556",
"incident",
"cases",
"and",
"557",
"controls",
"nested",
"in",
"the",
"Nurses'",
"Health",
"Study.",
"Most",
"of",
"the",
"SNPs",
"were",
"not",
"associated",
"with",
"risk",
"of",
"colorectal",
"adenoma.",
"We",
"did,",
"however,",
"observe",
"a",
"modest",
"increased",
"risk",
"among",
"carriers",
"of",
"the",
"transcobalamin",
"(TCN)",
"II",
"259",
"Pro/Arg",
"+",
"Arg/Arg",
"variant",
"(odds",
"ratio",
"1.48,",
"95%",
"confidence",
"interval",
"1.09-2.02)",
"for",
"colorectal",
"adenoma.",
"The",
"TCN",
"II",
"Pro259Arg",
"polymorphism",
"may",
"affect",
"TCN",
"binding",
"and",
"transport",
"of",
"vitamin",
"B(12)",
"and",
"thus",
"warrants",
"further",
"investigation",
"of",
"its",
"biological",
"function.",
"In",
"addition,",
"the",
"methionine",
"synthase",
"reductase",
"(MTRR)",
"Arg415Cys",
"and",
"MTRR",
"Ser284Thr",
"variant",
"carriers,",
"also",
"in",
"the",
"vitamin",
"B(12)",
"pathway,",
"have",
"suggestive",
"associations",
"with",
"advanced",
"colorectal",
"adenoma",
"(defined",
"as",
"being",
"larger",
"than",
"1",
"cm,",
"villous,",
"tubular-villous",
"or",
"carcinoma",
"in",
"situ",
"histology).",
"We",
"observed",
"significant",
"evidence",
"for",
"departure",
"from",
"multiplicative",
"interaction",
"for",
"the",
"betaine-homocysteine",
"methyltransferase",
"non-synonymous",
"single",
"nucleotide",
"polymorphisms",
" ",
"(nsSNPs)",
"in",
"13",
"genes",
"in",
"the",
"one-carbon",
"metabolism",
"pathway",
"and",
"risk",
"of",
"colorectal",
"adenoma",
"in",
"556",
"incident",
"cases",
"and",
"557",
"controls",
"nested",
"in",
"the",
"Nurses'",
"Health",
"Study.",
"Most",
"of",
"the",
"SNPs",
"were",
"not",
"associated",
"with",
"risk",
"of",
"colorectal",
"adenoma.",
"We",
"did,",
"however,",
"observe",
"a",
"modest",
"increased",
"risk",
"among",
"carriers",
"of",
"the",
"transcobalamin",
"SNPs",
" ",
"were",
"not",
"associated",
"with",
"risk",
"of",
"colorectal",
"adenoma.",
"We",
"did,",
"however,",
"observe",
"a",
"modest",
"increased",
"risk",
"among",
"carriers",
"of",
"the",
"transcobalamin",
"(TCN)",
"II",
"259",
"Pro/Arg",
"+",
"Arg/Arg",
"variant",
"TCN",
")",
"II",
"259",
"Pro/Arg",
"+",
"Arg/Arg",
"variant",
"(odds",
"ratio",
"1.48,",
"95%",
"confidence",
"interval",
"1.09-2.02)",
"for",
"colorectal",
"adenoma.",
"The",
"TCN",
"II",
" ",
"Pro259Arg",
"polymorphism",
"may",
"affect",
"TCN",
"binding",
"and",
"transport",
"of",
"vitamin",
"B(12)",
"and",
"thus",
"warrants",
"further",
"investigation",
"of",
"its",
"biological",
"function.",
"In",
"addition,",
"the",
"methionine",
"synthase",
"reductase",
"(MTRR)",
"Arg415Cys",
"and",
"MTRR",
"Ser284Thr",
"variant",
"carriers,",
"also",
"in",
"the",
"vitamin",
"B(12)",
"pathway,",
"have",
"suggestive",
"associations",
"with",
"advanced",
"colorectal",
"adenoma",
"(defined",
"as",
"being",
"larger",
"than",
"1",
"cm,",
"villous,",
"tubular-villous",
"or",
"carcinoma",
"in",
"situ",
"histology).",
"We",
"observed",
"significant",
"evidence",
"for",
"departure",
"from",
"multiplicative",
"interaction",
"for",
"the",
"betaine-homocysteine",
"methyltransferase",
"(BHMT)",
"Arg239Gln",
"with",
"dietary",
"methyl",
"status",
"(based",
"on",
"intake",
"of",
"dietary",
"folate,",
"methionine",
"and",
"alcohol",
"intake)",
"in",
"relation",
"to",
"colorectal",
"adenoma;",
"no",
"such",
"interaction",
"was",
"observed",
"for",
"the",
"other",
"23",
"SNPs.",
"Further",
"investigation",
"is",
"required",
"to",
"validate",
"the",
"association",
"of",
"the",
"polymorphisms",
"Pro259Arg",
" ",
"polymorphism",
"may",
"affect",
"TCN",
" ",
"binding",
"and",
"transport",
"of",
"vitamin",
"B(12)",
"and",
"thus",
"warrants",
"further",
"investigation",
"of",
"its",
"biological",
"function.",
"In",
"addition,",
"the",
"methionine",
"synthase",
"reductase",
"(MTRR)",
"Arg415Cys",
"and",
"MTRR",
"Ser284Thr",
"variant",
"carriers,",
"also",
"in",
"the",
"vitamin",
"B(12)",
"pathway,",
"have",
"suggestive",
"associations",
"with",
"advanced",
"colorectal",
"adenoma",
"(defined",
"as",
"being",
"larger",
"than",
"1",
"cm,",
"villous,",
"tubular-villous",
"or",
"carcinoma",
"in",
"situ",
"histology).",
"We",
"observed",
"significant",
"evidence",
"for",
"departure",
"from",
"multiplicative",
"interaction",
"for",
"the",
"betaine-homocysteine",
"methyltransferase",
"(BHMT)",
"Arg239Gln",
"with",
"dietary",
"methyl",
"status",
"(based",
"on",
"intake",
"of",
"dietary",
"folate,",
"methionine",
"and",
"alcohol",
"intake)",
"in",
"relation",
"to",
"colorectal",
"adenoma;",
"no",
"such",
"interaction",
"was",
"observed",
"for",
"the",
"other",
"23",
"SNPs.",
"Further",
"investigation",
"is",
"required",
"to",
"validate",
"the",
"association",
"of",
"the",
"polymorphisms",
"in",
"the",
"one-carbon",
"metabolic",
"genes",
"and",
"risk",
"of",
"colorectal",
"adenoma."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
5,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
3,
4,
4,
4,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
13,
14,
14,
14,
14,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
13,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Dietary folate and alcohol consumption as well as polymorphic variants in one-carbon metabolism genes may modulate risk of colorectal adenoma through aberrant DNA methylation and altered nucleotide synthesis and repair. We assessed the association of 24 non-synonymous single nucleotide polymorphisms ( nsSNPs ) in 13 genes in the one-carbon metabolism pathway and risk of colorectal adenoma in 556 incident cases and 557 controls nested in the Nurses' Health Study. Most of the SNPs were not associated with risk of colorectal adenoma. We did, however, observe a modest increased risk among carriers of the transcobalamin (TCN) II 259 Pro/Arg + Arg/Arg variant (odds ratio 1.48, 95% confidence interval 1.09-2.02) for colorectal adenoma. The TCN II Pro259Arg polymorphism may affect TCN binding and transport of vitamin B(12) and thus warrants further investigation of its biological function. In addition, the methionine synthase reductase (MTRR) Arg415Cys and MTRR Ser284Thr variant carriers, also in the vitamin B(12) pathway, have suggestive associations with advanced colorectal adenoma (defined as being larger than 1 cm, villous, tubular-villous or carcinoma in situ histology). We observed significant evidence for departure from multiplicative interaction for the betaine-homocysteine methyltransferase non-synonymous single nucleotide polymorphisms (nsSNPs) in 13 genes in the one-carbon metabolism pathway and risk of colorectal adenoma in 556 incident cases and 557 controls nested in the Nurses' Health Study. Most of the SNPs were not associated with risk of colorectal adenoma. We did, however, observe a modest increased risk among carriers of the transcobalamin SNPs were not associated with risk of colorectal adenoma. We did, however, observe a modest increased risk among carriers of the transcobalamin (TCN) II 259 Pro/Arg + Arg/Arg variant TCN ) II 259 Pro/Arg + Arg/Arg variant (odds ratio 1.48, 95% confidence interval 1.09-2.02) for colorectal adenoma. The TCN II Pro259Arg polymorphism may affect TCN binding and transport of vitamin B(12) and thus warrants further investigation of its biological function. In addition, the methionine synthase reductase (MTRR) Arg415Cys and MTRR Ser284Thr variant carriers, also in the vitamin B(12) pathway, have suggestive associations with advanced colorectal adenoma (defined as being larger than 1 cm, villous, tubular-villous or carcinoma in situ histology). We observed significant evidence for departure from multiplicative interaction for the betaine-homocysteine methyltransferase (BHMT) Arg239Gln with dietary methyl status (based on intake of dietary folate, methionine and alcohol intake) in relation to colorectal adenoma; no such interaction was observed for the other 23 SNPs. Further investigation is required to validate the association of the polymorphisms Pro259Arg polymorphism may affect TCN binding and transport of vitamin B(12) and thus warrants further investigation of its biological function. In addition, the methionine synthase reductase (MTRR) Arg415Cys and MTRR Ser284Thr variant carriers, also in the vitamin B(12) pathway, have suggestive associations with advanced colorectal adenoma (defined as being larger than 1 cm, villous, tubular-villous or carcinoma in situ histology). We observed significant evidence for departure from multiplicative interaction for the betaine-homocysteine methyltransferase (BHMT) Arg239Gln with dietary methyl status (based on intake of dietary folate, methionine and alcohol intake) in relation to colorectal adenoma; no such interaction was observed for the other 23 SNPs. Further investigation is required to validate the association of the polymorphisms in the one-carbon metabolic genes and risk of colorectal adenoma. |
25374237 | [
"Individuals",
"with",
"-31C",
"allele",
"and",
"CC",
"genotype",
"were",
"found",
"to",
"have",
"a",
"higher",
"risk",
"of",
"developing",
"colon",
"cancer",
"(OR=13.4,",
"p=0.01).",
"The",
"-241",
"CT",
"genotype",
"considerably",
"increased",
"the",
"risk",
"of",
"colon",
"cancer",
"(OR=12.0,",
"p=0.0001).",
"However,",
"there",
"was",
"no",
"significant",
"varaition",
"of",
"the",
"survivin",
"-625",
"C/G",
"polymorphism",
"among",
"colon",
"cancer",
"patients",
"and",
"controls",
"in",
"our",
"study."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Individuals with -31C allele and CC genotype were found to have a higher risk of developing colon cancer (OR=13.4, p=0.01). The -241 CT genotype considerably increased the risk of colon cancer (OR=12.0, p=0.0001). However, there was no significant varaition of the survivin -625 C/G polymorphism among colon cancer patients and controls in our study. |
20646601 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
23132392 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
9691992 | [] | [] | |
23132392 | [
"Somatic",
"MED12",
" ",
"exon",
"2",
" ",
"mutations",
"were",
"observed",
"in",
"uterine",
"leiomyosarcomas,",
"suggesting",
"that",
"a",
"subgroup",
"of",
"these",
"malignant",
"tumours",
"may",
"develop",
"from",
"a",
"leiomyoma",
"precursor.",
"Mutations",
"in",
"CRC",
"samples",
"indicate",
"that",
"MED12",
"MED12",
" ",
"mutations",
"in",
"uterine",
"leiomyosarcoma",
"and",
"colorectal",
"cancer.",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
1,
0,
7,
8,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Somatic MED12 exon 2 mutations were observed in uterine leiomyosarcomas, suggesting that a subgroup of these malignant tumours may develop from a leiomyoma precursor. Mutations in CRC samples indicate that MED12 MED12 mutations in uterine leiomyosarcoma and colorectal cancer.
## BACKGROUND |
22899730 | [
"We",
"evaluated",
"the",
"association",
"between",
"the",
"BRAF",
"c.1799T>A",
"(p.V600E)",
"mutation",
"and",
"survival",
"in",
"individuals",
"with",
"incident",
"invasive",
"CRC",
"diagnosed",
"between",
"1997",
"and",
"2007",
"in",
"Western",
"Washington",
"State.",
"Tumor",
"specimens",
"were",
"tested",
"for",
"this",
"BRAF",
"mutation",
"and",
"MSI",
"status.",
"We",
"used",
"Cox",
"regression",
"to",
"estimate",
"HRs",
"and",
"95%",
"confidence",
"intervals",
"(CI)",
"for",
"the",
"association",
"between",
"BRAF",
"mutation",
"status",
"and",
"disease-specific",
"and",
"overall",
"survival.",
"Stratified",
"analyses",
"were",
"conducted",
"by",
"age,",
"sex,",
"tumor",
"site,",
"stage,",
"and",
"MSI",
"status."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | We evaluated the association between the BRAF c.1799T>A (p.V600E) mutation and survival in individuals with incident invasive CRC diagnosed between 1997 and 2007 in Western Washington State. Tumor specimens were tested for this BRAF mutation and MSI status. We used Cox regression to estimate HRs and 95% confidence intervals (CI) for the association between BRAF mutation status and disease-specific and overall survival. Stratified analyses were conducted by age, sex, tumor site, stage, and MSI status. |
9609758 | [
"Thirty-three",
"sporadic",
"colorectal",
"cancers",
"and",
"20",
"normal",
"colonic",
"tissues",
"were",
"explored",
"by",
"immunohistochemistry",
"for",
"the",
"expression",
"of",
"type",
"I",
"and",
"type",
"II",
"TGF-beta",
"receptors",
".",
"Eighteen",
"tumor",
"and",
"20",
"normal",
"samples",
"were",
"used",
"for",
"radioactive",
"thermocycling",
"and",
"sequencing",
"of",
"the",
"two",
"microsatellite-like",
"regions",
"of",
"the",
"type",
"II",
"receptor."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
2,
2,
2,
2,
2,
2,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Thirty-three sporadic colorectal cancers and 20 normal colonic tissues were explored by immunohistochemistry for the expression of type I and type II TGF-beta receptors . Eighteen tumor and 20 normal samples were used for radioactive thermocycling and sequencing of the two microsatellite-like regions of the type II receptor. |
17234021 | [
"A",
"decision",
"analytic",
"model",
"(Markov",
"model)",
"is",
"developed",
"to",
"assess",
"surveillance",
"programs",
"where",
"families",
"at",
"high",
"and",
"moderate",
"risk",
"of",
"HNPCC",
"are",
"offered",
"surveillance",
"from",
"age",
"25",
"and",
"age",
"45,",
"respectively.",
"The",
"model",
"includes",
"costs",
"for",
"all",
"families",
"referred",
"to",
"genetic",
"counseling,",
"including",
"genetic",
"risk",
"assessment,",
"mutation",
" ",
"analysis,",
"and",
"surveillance",
"in",
"relevant",
"families",
"with",
"or",
"without",
"known",
"mutation",
",",
"plus",
"the",
"costs",
"related",
"to",
"any",
"surgical",
"treatment.",
"The",
"risk",
"of",
"metachronous",
"CRC",
"is",
"also",
"modeled."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
9,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
9,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | A decision analytic model (Markov model) is developed to assess surveillance programs where families at high and moderate risk of HNPCC are offered surveillance from age 25 and age 45, respectively. The model includes costs for all families referred to genetic counseling, including genetic risk assessment, mutation analysis, and surveillance in relevant families with or without known mutation , plus the costs related to any surgical treatment. The risk of metachronous CRC is also modeled. |
9841584 | [
"Life",
"expectancy",
"and",
"quality-adjusted",
"life",
"expectancy."
] | [
0,
0,
0,
0,
0,
0
] | Life expectancy and quality-adjusted life expectancy. |
22899730 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
16924054 | [
"We",
"report",
"the",
"case",
"of",
"a",
"54-year-old",
"man",
"with",
"a",
"2-year",
"history",
"of",
"skin-colored",
"papules",
"clinically",
"reminiscent",
"of",
"large",
"sebaceous",
"hyperplasias",
"on",
"the",
"nose",
"and",
"back,",
"but",
"histologically",
"diagnosed",
"as",
"sebaceous",
"adenomas",
"and",
"epitheliomas.",
"His",
"family",
"history",
"was",
"positive",
"for",
"colon",
"cancer",
"in",
"the",
"mother",
"and",
"2",
"brothers.",
"A",
"colonoscopy",
"done",
"during",
"the",
"hospitalization",
"revealed",
"2",
"sessile",
"polyps",
"in",
"the",
"left",
"colon,",
"both",
"showing",
"a",
"low-grade",
"dysplasia",
"on",
"the",
"biopsy",
"specimen.",
"Immunohistochemical",
"staining",
"performed",
"on",
"the",
"cutaneous",
"and",
"colic",
"biopsy",
"specimens",
"revealed",
"a",
"lack",
"of",
"expression",
"of",
"MSH-2",
"and",
"MSH-6.",
"Genetic",
"testing",
"revealed",
"microsatellite",
"instability",
"in",
"the",
"colon",
"and",
"cutaneous",
"tumors."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | We report the case of a 54-year-old man with a 2-year history of skin-colored papules clinically reminiscent of large sebaceous hyperplasias on the nose and back, but histologically diagnosed as sebaceous adenomas and epitheliomas. His family history was positive for colon cancer in the mother and 2 brothers. A colonoscopy done during the hospitalization revealed 2 sessile polyps in the left colon, both showing a low-grade dysplasia on the biopsy specimen. Immunohistochemical staining performed on the cutaneous and colic biopsy specimens revealed a lack of expression of MSH-2 and MSH-6. Genetic testing revealed microsatellite instability in the colon and cutaneous tumors. |
22899730 | [
"The",
"presence",
"of",
"a",
"BRAF",
"c.1799T>A",
"(",
"p.V600E",
"BRAF",
" ",
"c.1799T>A",
"(",
"p.V600E",
"mutation",
" ",
"status",
"and",
"CRC",
"survival,",
"however,",
"remains",
"unclear."
] | [
0,
0,
0,
0,
0,
0,
0,
13,
1,
0,
0,
0,
13,
3,
0,
0,
0,
0,
0,
0,
0,
0
] | The presence of a BRAF c.1799T>A ( p.V600E BRAF c.1799T>A ( p.V600E mutation status and CRC survival, however, remains unclear. |
8187091 | [] | [] | |
14645426 | [
"##",
"PATIENTS",
"AND",
"METHODS"
] | [
0,
0,
0,
0
] | ## PATIENTS AND METHODS |
14734469 | [
"##",
"EXPERIMENTAL",
"DESIGN"
] | [
0,
0,
0
] | ## EXPERIMENTAL DESIGN |
22899730 | [
"We",
"evaluated",
"the",
"association",
"between",
"the",
"BRAF",
"c.1799T>A",
"(p.V600E)",
"mutation",
"and",
"survival",
"in",
"individuals",
"with",
"incident",
"invasive",
"CRC",
"diagnosed",
"between",
"1997",
"and",
"2007",
"in",
"Western",
"Washington",
"State.",
"Tumor",
"specimens",
"were",
"tested",
"for",
"this",
"BRAF",
"mutation",
"and",
"MSI",
"status.",
"We",
"used",
"Cox",
"regression",
"to",
"estimate",
"HRs",
"and",
"95%",
"confidence",
"intervals",
"(CI)",
"for",
"the",
"association",
"between",
"BRAF",
"mutation",
"status",
"and",
"disease-specific",
"and",
"overall",
"survival.",
"Stratified",
"analyses",
"were",
"conducted",
"by",
"age,",
"sex,",
"tumor",
"site,",
"stage,",
"and",
"MSI",
"status."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | We evaluated the association between the BRAF c.1799T>A (p.V600E) mutation and survival in individuals with incident invasive CRC diagnosed between 1997 and 2007 in Western Washington State. Tumor specimens were tested for this BRAF mutation and MSI status. We used Cox regression to estimate HRs and 95% confidence intervals (CI) for the association between BRAF mutation status and disease-specific and overall survival. Stratified analyses were conducted by age, sex, tumor site, stage, and MSI status. |
20725929 | [
"Leiden",
"Open",
"Variation",
"Database",
"of",
"the",
"MUTYH",
"gene."
] | [
0,
0,
0,
0,
0,
0,
0,
0
] | Leiden Open Variation Database of the MUTYH gene. |
14734469 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
8261516 | [] | [] | |
26302849 | [
"Gastric",
"and",
"colorectal",
"cancers",
"have",
"a",
"major",
"impact",
"on",
"public",
"health,",
"and",
"are",
"the",
"most",
"common",
"malignant",
"tumors",
"in",
"China.",
"The",
"aim",
"of",
"this",
"research",
"was",
"to",
"study",
"whether",
"polymorphisms",
"of",
"CHCHD3P1-HSP90AB7P,",
"GRID1",
",",
"HSPA12A",
",",
"PRLHR",
",",
"SBF2",
",",
"POLD3",
" ",
"and",
"C11orf93-C11orf92",
"genes",
"are",
"associated",
"with",
"the",
"risk",
"of",
"gastric",
"and",
"colorectal",
"cancers",
"in",
"the",
"Chinese",
"Han",
"population."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
1,
0,
1,
0,
1,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Gastric and colorectal cancers have a major impact on public health, and are the most common malignant tumors in China. The aim of this research was to study whether polymorphisms of CHCHD3P1-HSP90AB7P, GRID1 , HSPA12A , PRLHR , SBF2 , POLD3 and C11orf93-C11orf92 genes are associated with the risk of gastric and colorectal cancers in the Chinese Han population. |
23512527 | [] | [] | |
8431846 | [
"##",
"PATIENTS",
"AND",
"RESULTS"
] | [
0,
0,
0,
0
] | ## PATIENTS AND RESULTS |
19706845 | [
"To",
"screen",
"for",
"tagging",
"single",
"nucleotide",
"polymorphisms",
"(tagSNP)",
"in",
"the",
"major",
"alcohol",
"metabolizing",
"enzymes:",
"ADH1B,",
"ALDH2,",
"and",
"CYP2E1,",
"and",
"to",
"evaluate",
"the",
"association",
"between",
"these",
"tagSNPs",
"and",
"colorectal",
"cancer",
"(CRC)",
"in",
"a",
"southwestern",
"Chinese",
"population."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | To screen for tagging single nucleotide polymorphisms (tagSNP) in the major alcohol metabolizing enzymes: ADH1B, ALDH2, and CYP2E1, and to evaluate the association between these tagSNPs and colorectal cancer (CRC) in a southwestern Chinese population. |
26302849 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
9476377 | [
"From",
"seven",
"different",
"mutations",
"found,",
"4",
"mutations",
"have",
"been",
"previously",
"described",
"(mutations",
"in",
"codons",
"935,",
"1061,",
"1309",
"and",
"1554),",
"3",
"mutations",
"in",
"the",
"APC",
"gene",
"are",
"described",
"here",
"for",
"the",
"first",
"time,",
"namely",
"the",
"mutations",
" ",
"in",
"codons",
"712",
",",
"759",
"and",
"767",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
7,
8,
0,
0,
0,
7,
0
] | From seven different mutations found, 4 mutations have been previously described (mutations in codons 935, 1061, 1309 and 1554), 3 mutations in the APC gene are described here for the first time, namely the mutations in codons 712 , 759 and 767 . |
20196079 | [] | [] | |
18268114 | [
"Large-scale",
"evaluation",
"of",
"genetic",
"variants",
"in",
"candidate",
"genes",
"for",
"colorectal",
"cancer",
"risk",
"in",
"the",
"Nurses'",
"Health",
"Study",
"and",
"the",
"Health",
"Professionals'",
"Follow-up",
"Study."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Large-scale evaluation of genetic variants in candidate genes for colorectal cancer risk in the Nurses' Health Study and the Health Professionals' Follow-up Study. |
14734469 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
24225759 | [
"A",
"significant",
"proportion",
"of",
"HP",
"or",
"SSA/P",
"precursor",
"lesions",
"accompanied",
"by",
"TSAs",
"can",
"be",
"detected",
"by",
"endoscopy",
"based",
"on",
"both",
"their",
"flat-elevated",
"growth",
"and",
"type",
"II",
"pit",
"patterns.",
"The",
"heterogeneity",
"of",
"TSAs",
"in",
"terms",
"of",
"clinicopathologic",
"and",
"molecular",
"features",
"correlated",
"with",
"the",
"status",
"or",
"type",
"of",
"precursor",
"lesions."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | A significant proportion of HP or SSA/P precursor lesions accompanied by TSAs can be detected by endoscopy based on both their flat-elevated growth and type II pit patterns. The heterogeneity of TSAs in terms of clinicopathologic and molecular features correlated with the status or type of precursor lesions. |
9731891 | [
"Microsatellite",
"instability",
"is",
"prone",
"to",
"occur",
"in",
"sporadic",
"right",
"colon",
"carcinoma",
"during",
"tumor",
"growth",
"and",
"is",
"not",
"associated",
"significantly",
"with",
"mutations",
"in",
"the",
"hMLH1",
"and",
"hMSH2",
"mismatch",
"repair",
"genes",
"or",
"in",
"the",
"p53",
"gene.",
"Concomitant",
"detection",
"of",
"microsatellite",
"instability",
"and",
"p53",
"mutations",
"mutations",
" ",
"correlated",
"with",
"lymph",
"node",
"metastases",
"from",
"right",
"colon",
"carcinoma",
"cases",
"(61%),",
"and",
"all",
"cases",
"with",
"p53",
"mutations",
"and",
"microsatellite",
"instability",
"were",
"AJCC/UICC",
"Stage",
"III",
"(Dukes",
"Stage",
"C).",
"In",
"the",
"right",
"colon",
"carcinoma",
"cases",
"the",
"rate",
"of",
"microsatellite",
"instability",
"was",
"related",
"to",
"the",
"tumor",
"size",
"(19%",
"in",
"tumors",
"measuring",
"<",
"4",
"cm,",
"and",
"34%",
"in",
"tumors",
"measuring",
">",
"4",
"cm).",
"No",
"correlation",
"between",
"microsatellite",
"instability",
"and",
"p53",
"mutations",
"was",
"detected.",
"In",
"the",
"left",
"colon",
"carcinoma",
"cases,",
"p53",
"mutations",
"were",
"detected",
"in",
"41%",
"of",
"tumors",
"and",
"microsatellite",
"instability",
"in",
"14%;",
"neither",
"finding",
"was",
"related",
"to",
"the",
"tumor",
"size.",
"Mutations",
"of",
"the",
"hMLH1",
"and",
"hMSH2",
"mismatch",
"repair",
"genes",
"were",
"detected",
"in",
"7",
"of",
"24",
"cases",
"with",
"marked",
"microsatellite",
"instability."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Microsatellite instability is prone to occur in sporadic right colon carcinoma during tumor growth and is not associated significantly with mutations in the hMLH1 and hMSH2 mismatch repair genes or in the p53 gene. Concomitant detection of microsatellite instability and p53 mutations mutations correlated with lymph node metastases from right colon carcinoma cases (61%), and all cases with p53 mutations and microsatellite instability were AJCC/UICC Stage III (Dukes Stage C). In the right colon carcinoma cases the rate of microsatellite instability was related to the tumor size (19% in tumors measuring < 4 cm, and 34% in tumors measuring > 4 cm). No correlation between microsatellite instability and p53 mutations was detected. In the left colon carcinoma cases, p53 mutations were detected in 41% of tumors and microsatellite instability in 14%; neither finding was related to the tumor size. Mutations of the hMLH1 and hMSH2 mismatch repair genes were detected in 7 of 24 cases with marked microsatellite instability. |
26416897 | [
"##",
"CONCLUSIONS"
] | [
0,
0
] | ## CONCLUSIONS |
9841584 | [
"##",
"OBJECTIVE"
] | [
0,
0
] | ## OBJECTIVE |
26925673 | [
"To",
"evaluate",
"the",
"impact",
"of",
"cellular",
"genetic",
"make-",
"up",
"of",
"two",
"colon",
"cancer",
"cell",
"lines",
"with",
"different",
"genetic",
"backgrounds,",
"HCT-116",
"(K-Ras-/p53+)",
"and",
"Caco-2",
"(K-Ras+/",
"p53-),",
"on",
"response",
"to",
"potential",
"anti-tumour",
"effects",
"of",
"EA.",
"In",
"addition,",
"the",
"influence",
"of",
"K-Ras",
" ",
"silencing",
"in",
"HCT-",
"116",
"cells",
"was",
"investigated."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0
] | To evaluate the impact of cellular genetic make- up of two colon cancer cell lines with different genetic backgrounds, HCT-116 (K-Ras-/p53+) and Caco-2 (K-Ras+/ p53-), on response to potential anti-tumour effects of EA. In addition, the influence of K-Ras silencing in HCT- 116 cells was investigated. |
26416897 | [
"We",
"analyzed",
"genomic",
"DNA",
"extracted",
"from",
"samples",
"of",
"patients",
"receiving",
"bevacizumab",
"plus",
"FOLFIRI",
"as",
"a",
"first-line",
"treatment",
"using",
"PCR-based",
"direct",
"sequencing.",
"Twelve",
"functional",
"single-nucleotide",
"polymorphisms",
"in",
"eight",
"genes",
"(CCL2,",
"CCR2,",
"HRG,",
"PIGF,",
"NFKB1,",
"TBK1,",
"CCL18,",
"and",
"IRF3)",
"were",
"tested",
"for",
"associations",
"with",
"clinical",
"outcomes",
"in",
"a",
"discovery",
"cohort",
"of",
"228",
"participants",
"in",
"TRIBE",
"trial",
"(NCT00719797),",
"then",
"validated",
"in",
"248",
"KRAS",
"CCR2",
" ",
"axis,",
"histidine-rich",
"glycoprotein",
"(",
"HRG",
"Variations",
" ",
"in",
"genes",
"regulating",
"tumor-associated",
"macrophages",
"(TAMs)",
"to",
"predict",
"outcomes",
"of",
"bevacizumab-based",
"treatment",
"in",
"patients",
"with",
"metastatic",
"colorectal",
"cancer:",
"results",
"from",
"TRIBE",
"and",
"FIRE3",
"trials.",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
1,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | We analyzed genomic DNA extracted from samples of patients receiving bevacizumab plus FOLFIRI as a first-line treatment using PCR-based direct sequencing. Twelve functional single-nucleotide polymorphisms in eight genes (CCL2, CCR2, HRG, PIGF, NFKB1, TBK1, CCL18, and IRF3) were tested for associations with clinical outcomes in a discovery cohort of 228 participants in TRIBE trial (NCT00719797), then validated in 248 KRAS CCR2 axis, histidine-rich glycoprotein ( HRG Variations in genes regulating tumor-associated macrophages (TAMs) to predict outcomes of bevacizumab-based treatment in patients with metastatic colorectal cancer: results from TRIBE and FIRE3 trials.
## BACKGROUND |
9439149 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
22810479 | [
":",
"We",
"searched",
"PubMed,",
"Embase,",
"and",
"the",
"Cochrane",
"databases",
"from",
"January",
"1992",
"to",
"November",
"2011."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | : We searched PubMed, Embase, and the Cochrane databases from January 1992 to November 2011. |
19276868 | [
"An",
"unbiased",
"chemical",
"screening",
"using",
"isogenic",
"cell",
"lines",
"that",
"only",
"differ",
"in",
"the",
"DPC4",
"gene",
"was",
"carried",
"out",
"to",
"identify",
"positive",
"hits.",
"Selected",
"hits",
"were",
"further",
"verified",
"in",
"additional",
"isogenic",
"cell",
"lines",
"and",
"characterized",
"in",
"cancer",
"cells",
"using",
"several",
"different",
"cellular",
"assays."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | An unbiased chemical screening using isogenic cell lines that only differ in the DPC4 gene was carried out to identify positive hits. Selected hits were further verified in additional isogenic cell lines and characterized in cancer cells using several different cellular assays. |
17454882 | [
"Altogether,",
"1133",
"individuals",
"were",
"included",
"and",
"observed",
"for",
"a",
"total",
"of",
"3474",
"follow-up",
"years",
"from",
"the",
"first",
"to",
"the",
"last",
"colonoscopy",
"initiated",
"by",
"our",
"activity.",
"Mismatch",
"repair",
"(MMR)",
"mutations",
" ",
"were",
"detected",
"in",
"6.5%",
"of",
"cases.",
"A",
"total",
"of",
"1383",
"polyps",
"were",
"removed,",
"72%",
"were",
"less",
"than",
"5",
"mm",
"in",
"diameter.",
"Findings",
"were",
"scored",
"as",
"hyperplastic",
"polyps",
"(n=887),",
"adenomas",
"with",
"mild",
"to",
"moderate",
"dysplasia",
"(n=460),",
"adenomas",
"with",
"high-grade",
"dysplasia",
"(n=30)",
"and",
"cancers",
"(n=6).",
"Two",
"cancers",
"were",
"observed",
"after",
"the",
"first",
"colonoscopy,",
"compared",
"with",
"2.6",
"expected",
"by",
"chance",
"and",
"more",
"than",
"20",
"expected",
"under",
"the",
"hypothesis",
"of",
"predominant",
"inherited",
"diseases",
"in",
"the",
"families.",
"Observed",
"annual",
"incidence",
"rates",
"for",
"adenomas",
"were",
"similar",
"in",
"all",
"groups,",
"while",
"in",
"the",
"mutation",
" ",
"carriers",
"there",
"was",
"a",
"higher",
"frequency",
"of",
"progression",
"to",
"severe",
"dysplasia",
"or",
"infiltrating",
"cancer."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
9,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
9,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Altogether, 1133 individuals were included and observed for a total of 3474 follow-up years from the first to the last colonoscopy initiated by our activity. Mismatch repair (MMR) mutations were detected in 6.5% of cases. A total of 1383 polyps were removed, 72% were less than 5 mm in diameter. Findings were scored as hyperplastic polyps (n=887), adenomas with mild to moderate dysplasia (n=460), adenomas with high-grade dysplasia (n=30) and cancers (n=6). Two cancers were observed after the first colonoscopy, compared with 2.6 expected by chance and more than 20 expected under the hypothesis of predominant inherited diseases in the families. Observed annual incidence rates for adenomas were similar in all groups, while in the mutation carriers there was a higher frequency of progression to severe dysplasia or infiltrating cancer. |
22810479 | [
"##",
"LIMITATIONS"
] | [
0,
0
] | ## LIMITATIONS |
10962562 | [
"Breast",
"cancer",
"susceptibility",
"gene",
"BRCA1",
"has",
"been",
"implicated",
"in",
"the",
"control",
"of",
"gene",
"regulation",
"and",
"such",
"regulated",
"genes",
"are",
"thought",
"to",
"mediate",
"the",
"biological",
"role",
"of",
"BRCA1.",
"Overexpression",
"of",
"BRCA1",
"induces",
"GADD45,",
"a",
"p53-regulated",
"and",
"stress-inducible",
"gene.",
"However,",
"the",
"molecular",
"mechanism",
"by",
"which",
"BRCA1",
"induces",
"the",
"expression",
"GADD45",
"remains",
"unclear.",
"In",
"this",
"report,",
"we",
"have",
"shown",
"that",
"the",
"GADD45",
"promoter",
"is",
"strongly",
"activated",
"following",
"expression",
"of",
"wild-type",
"BRCA1.",
"In",
"contrast,",
"both",
"the",
"tumor-derived",
"BRCA1",
"mutants",
"(p1749R",
"and",
"Y1853insA)",
"and",
"truncated",
"BRCA1",
"mutant",
"protein",
"(Delta500",
"-",
"1863",
"BRCA1),",
"which",
"lack",
"transactivation",
"activity,",
"were",
"unable",
"to",
"activate",
"the",
"GADD45",
"promoter,",
"indicating",
"that",
"the",
"BRCA1-mediated",
"activation",
"of",
"the",
"GADD45",
"BRCA1",
"GADD45",
"Delta500",
"-",
"1863",
" ",
"BRCA1",
"),",
"which",
"lack",
"transactivation",
"activity,",
"were",
"unable",
"to",
"activate",
"the",
"GADD45",
"promoter,",
"indicating",
"that",
"the",
"BRCA1-mediated",
"activation",
"of",
"the",
"GADD45",
"promoter",
"requires",
"normal",
"transcriptional",
"properties",
"of",
"BRCA1.",
"BRCA1",
"did",
"not",
"induce",
"the",
"c-Jun",
"and",
"c-fos",
"promoters",
"promoter",
" ",
"requires",
"normal",
"transcriptional",
"properties",
"of",
"BRCA1.",
"BRCA1",
"did",
"not",
"induce",
"the",
"c-Jun",
"and",
"c-fos",
"promoters,",
"which",
"rules",
"out",
"a",
"general",
"effect",
"of",
"BRCA1",
"on",
"other",
"immediate-responsive",
"genes.",
"Expression",
"of",
"the",
"human",
"papillomavirus",
"E6",
"and",
"the",
"dominant-negative",
"mutant",
" ",
"p53",
"proteins",
"had",
"no",
"effect",
"on",
"the",
"induction",
"of",
"the",
"GADD45",
" ",
"promoter",
"by",
"BRCA1,",
"suggesting",
"that",
"activation",
"of",
"the",
"GADD45",
"p53",
" ",
"proteins",
"had",
"no",
"effect",
"on",
"the",
"induction",
"of",
"the",
"GADD45",
"promoter",
"by",
"BRCA1,",
"suggesting",
"that",
"activation",
"of",
"the",
"GADD45",
"promoter",
"BRCA1",
",",
"suggesting",
"that",
"activation",
"of",
"the",
"GADD45",
"promoter",
"by",
"BRCA1",
"promoter",
" ",
"by",
"BRCA1,",
"suggesting",
"that",
"activation",
"of",
"the",
"GADD45",
"promoter",
"by",
"BRCA1",
"is",
"independent",
"of",
"cellular",
"p53",
"function.",
"With",
"the",
"5'-deletion",
"analysis,",
"the",
"BRCA1",
"-responsive",
"element",
"of",
"the",
"GADD45",
"p53",
" ",
"function.",
"With",
"the",
"5'-deletion",
"analysis,",
"the",
"BRCA1-responsive",
"element",
"of",
"the",
"GADD45",
"promoter",
"was",
"mapped",
"at",
"the",
"region",
"from",
"-121",
"to",
"-75",
"BRCA1-responsive",
"element",
" ",
"of",
"the",
"GADD45",
"promoter",
"was",
"mapped",
"at",
"the",
"region",
"from",
"-121",
"to",
"-75.",
"Disruption",
"of",
"this",
"region",
"resulted",
"in",
"the",
"abrogation",
"of",
"BRCA1",
"activation",
"of",
"the",
"GADD45",
"promoter",
" ",
"was",
"mapped",
"at",
"the",
"region",
"from",
"-121",
"to",
"-75.",
"Disruption",
"of",
"this",
"region",
"resulted",
"in",
"the",
"abrogation",
"of",
"BRCA1",
"activation",
"of",
"the",
"GADD45",
"promoter.",
"Taken",
"together,",
"these",
"results",
"demonstrate",
"that",
"the",
"mechanism",
"by",
"which",
"BRCA1",
"BRCA1",
"promoter",
"."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
1,
13,
14,
14,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
7,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
7,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
7,
8,
8,
7,
8,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
7,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
1,
7,
0
] | Breast cancer susceptibility gene BRCA1 has been implicated in the control of gene regulation and such regulated genes are thought to mediate the biological role of BRCA1. Overexpression of BRCA1 induces GADD45, a p53-regulated and stress-inducible gene. However, the molecular mechanism by which BRCA1 induces the expression GADD45 remains unclear. In this report, we have shown that the GADD45 promoter is strongly activated following expression of wild-type BRCA1. In contrast, both the tumor-derived BRCA1 mutants (p1749R and Y1853insA) and truncated BRCA1 mutant protein (Delta500 - 1863 BRCA1), which lack transactivation activity, were unable to activate the GADD45 promoter, indicating that the BRCA1-mediated activation of the GADD45 BRCA1 GADD45 Delta500 - 1863 BRCA1 ), which lack transactivation activity, were unable to activate the GADD45 promoter, indicating that the BRCA1-mediated activation of the GADD45 promoter requires normal transcriptional properties of BRCA1. BRCA1 did not induce the c-Jun and c-fos promoters promoter requires normal transcriptional properties of BRCA1. BRCA1 did not induce the c-Jun and c-fos promoters, which rules out a general effect of BRCA1 on other immediate-responsive genes. Expression of the human papillomavirus E6 and the dominant-negative mutant p53 proteins had no effect on the induction of the GADD45 promoter by BRCA1, suggesting that activation of the GADD45 p53 proteins had no effect on the induction of the GADD45 promoter by BRCA1, suggesting that activation of the GADD45 promoter BRCA1 , suggesting that activation of the GADD45 promoter by BRCA1 promoter by BRCA1, suggesting that activation of the GADD45 promoter by BRCA1 is independent of cellular p53 function. With the 5'-deletion analysis, the BRCA1 -responsive element of the GADD45 p53 function. With the 5'-deletion analysis, the BRCA1-responsive element of the GADD45 promoter was mapped at the region from -121 to -75 BRCA1-responsive element of the GADD45 promoter was mapped at the region from -121 to -75. Disruption of this region resulted in the abrogation of BRCA1 activation of the GADD45 promoter was mapped at the region from -121 to -75. Disruption of this region resulted in the abrogation of BRCA1 activation of the GADD45 promoter. Taken together, these results demonstrate that the mechanism by which BRCA1 BRCA1 promoter . |
9731891 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
22810479 | [
":",
"The",
"prognostic",
"value",
"of",
"K-ras",
"gene",
"mutations",
"was",
"examined",
"in",
"patients",
"with",
"colorectal",
"cancer",
"who",
"did",
"not",
"receive",
"preoperative",
"chemotherapy",
"or",
"radiation."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | : The prognostic value of K-ras gene mutations was examined in patients with colorectal cancer who did not receive preoperative chemotherapy or radiation. |
17234021 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
25840688 | [
"The",
"current",
"paradigm",
"of",
"metastasis",
"proposes",
"that",
"rare",
"cells",
"within",
"primary",
"tumors",
"acquire",
"metastatic",
"capability",
"via",
"sequential",
"mutations,",
"suggesting",
"that",
"metastases",
"are",
"genetically",
"dissimilar",
"from",
"their",
"primary",
"tumors.",
"This",
"study",
"investigated",
"the",
"changes",
"in",
"the",
"level",
"of",
"expression",
"of",
"a",
"well-defined",
"panel",
"of",
"cell",
"proliferation,",
"differentiation,",
"and",
"apoptosis",
"markers",
"between",
"the",
"primary",
"colorectal",
"cancer",
"(CRC)",
"and",
"the",
"corresponding",
"synchronous",
"lymph",
"node",
"(LN)",
"metastasis",
"from",
"the",
"same",
"patients.",
"DNA",
"flow",
"cytometry",
"and",
"immunostaining",
"of",
"p53,",
"bcl-2,",
"and",
"c-myc",
"were",
"carried",
"out",
"on",
"36",
"cases",
"of",
"CRC",
"radical",
"resection",
"specimens",
"with",
"their",
"corresponding",
"LN",
"metastases.",
"There",
"was",
"very",
"low",
"probability",
"that",
"the",
"histological",
"patterns",
"of",
"primary",
"tumors",
"and",
"LN",
"metastases",
"are",
"independent",
"(p",
"β",
"<",
"β",
"0.001).",
"Metastatic",
"tumors",
"were",
"significantly",
"more",
"diffusely",
"positive",
"for",
"p53",
" ",
"than",
"the",
"primary",
"tumors",
"(p",
"β",
"<",
"β",
"0.001).",
"Conversely,",
"primary",
"tumors",
"were",
"significantly",
"more",
"diffusely",
"positive",
"for",
"c-myc",
" ",
"than",
"metastatic",
"tumors",
"(p",
"β",
"=",
"β",
"0.011).",
"No",
"significant",
"difference",
"was",
"found",
"between",
"the",
"LNs",
"and",
"the",
"primary",
"tumors",
"in",
"bcl-2",
" ",
"positivity",
"(p",
"β",
"=",
"β",
"0.538)",
"and",
"DNA",
"aneuploidy",
"(p",
"β",
"=",
"β",
"0.35),",
"with",
"a",
"tendency",
"towards",
"negative",
"bcl-2",
" ",
"and",
"less",
"aneuploidy",
"in",
"LN",
"metastases",
"than",
"primary",
"tumors.",
"In",
"conclusion,",
"LN",
"metastatic",
"colorectal",
"carcinomas",
"have",
"a",
"tendency",
"of",
"being",
"less",
"differentiated,",
"with",
"a",
"higher",
"incidence",
"of",
"diffuse",
"p53",
" ",
"staining,",
"lower",
"incidence",
"of",
"bcl-2",
"p53",
",",
"bcl-2,",
"and",
"c-myc",
"bcl-2",
",",
"and",
"c-myc",
"expression--a",
"pilot",
"study."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
1,
1,
0,
0,
0,
1,
1,
0,
0,
0,
0,
0,
0
] | The current paradigm of metastasis proposes that rare cells within primary tumors acquire metastatic capability via sequential mutations, suggesting that metastases are genetically dissimilar from their primary tumors. This study investigated the changes in the level of expression of a well-defined panel of cell proliferation, differentiation, and apoptosis markers between the primary colorectal cancer (CRC) and the corresponding synchronous lymph node (LN) metastasis from the same patients. DNA flow cytometry and immunostaining of p53, bcl-2, and c-myc were carried out on 36 cases of CRC radical resection specimens with their corresponding LN metastases. There was very low probability that the histological patterns of primary tumors and LN metastases are independent (p β < β 0.001). Metastatic tumors were significantly more diffusely positive for p53 than the primary tumors (p β < β 0.001). Conversely, primary tumors were significantly more diffusely positive for c-myc than metastatic tumors (p β = β 0.011). No significant difference was found between the LNs and the primary tumors in bcl-2 positivity (p β = β 0.538) and DNA aneuploidy (p β = β 0.35), with a tendency towards negative bcl-2 and less aneuploidy in LN metastases than primary tumors. In conclusion, LN metastatic colorectal carcinomas have a tendency of being less differentiated, with a higher incidence of diffuse p53 staining, lower incidence of bcl-2 p53 , bcl-2, and c-myc bcl-2 , and c-myc expression--a pilot study. |
22899730 | [
"##",
"IMPACT"
] | [
0,
0
] | ## IMPACT |
8431846 | [
"##",
"PATIENTS",
"AND",
"RESULTS"
] | [
0,
0,
0,
0
] | ## PATIENTS AND RESULTS |
9731891 | [
"##",
"CONCLUSIONS"
] | [
0,
0
] | ## CONCLUSIONS |
9841584 | [
"Life",
"expectancy",
"and",
"quality-adjusted",
"life",
"expectancy."
] | [
0,
0,
0,
0,
0,
0
] | Life expectancy and quality-adjusted life expectancy. |
19276868 | [
"The",
"deleted",
"in",
"pancreatic",
"cancer",
"locus",
"4",
"(DPC4)/SMAD4",
"tumor",
"suppressor",
"gene",
"is",
"frequently",
"inactivated",
"in",
"pancreatic",
"(approximately",
"55%)",
"and",
"colorectal",
"cancers",
"(approximately",
"30%).",
"Like",
"other",
"tumor",
"suppressor",
"genes,",
"the",
"loss-of-function",
"mutations",
"found",
"in",
"the",
"DPC4",
" ",
"gene",
"are",
"specific",
"to",
"cancer",
"cells.",
"This",
"provides",
"an",
"attractive",
"and",
"unique",
"opportunity",
"for",
"therapeutic",
"intervention.",
"The",
"aim",
"of",
"this",
"study",
"was",
"to",
"identify",
"and",
"characterize",
"small",
"molecules",
"that",
"selectively",
"kill",
"DPC4",
"-deficient",
"cancer",
"cells."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0
] | The deleted in pancreatic cancer locus 4 (DPC4)/SMAD4 tumor suppressor gene is frequently inactivated in pancreatic (approximately 55%) and colorectal cancers (approximately 30%). Like other tumor suppressor genes, the loss-of-function mutations found in the DPC4 gene are specific to cancer cells. This provides an attractive and unique opportunity for therapeutic intervention. The aim of this study was to identify and characterize small molecules that selectively kill DPC4 -deficient cancer cells. |
22810479 | [
":",
"The",
"prognostic",
"value",
"of",
"K-ras",
" ",
"gene",
"mutations",
" ",
"was",
"examined",
"in",
"patients",
"with",
"colorectal",
"cancer",
"who",
"did",
"not",
"receive",
"preoperative",
"chemotherapy",
"or",
"radiation."
] | [
0,
0,
0,
0,
0,
1,
0,
0,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | : The prognostic value of K-ras gene mutations was examined in patients with colorectal cancer who did not receive preoperative chemotherapy or radiation. |
9609758 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
19706845 | [
"##",
"RESULTS"
] | [
0,
0
] | ## RESULTS |
8431846 | [
"It",
"has",
"been",
"reported",
"that",
"colorectal",
"carcinomas",
"are",
"caused",
"by",
"a",
"multistage",
"process.",
"In",
"patients",
"with",
"familial",
"adenomatous",
"polyposis,",
"carcinoma",
"of",
"the",
"colorectum",
"frequently",
"develops",
"and",
"occasionally",
"polyps",
"develop",
"in",
"the",
"upper",
"gastrointestinal",
"tract.",
"Chromosomal",
"deletion",
"often",
"is",
"found",
"for",
"chromosomes",
"5,",
"17,",
"and",
"18,",
"on",
"which",
"tumor",
"suppressor",
"genes",
"are",
"located.",
"Furthermore,",
"loss",
"of",
"the",
"alleles",
"of",
"loci",
"on",
"chromosome",
"3",
"has",
"been",
"reported",
"in",
"renal",
"cell",
"carcinoma,",
"small",
"cell",
"lung",
"carcinoma,",
"and",
"mixed",
"salivary",
"gland",
"tumor",
"in",
"hereditary",
"and",
"sporadic",
"cases.",
"These",
"data",
"support",
"the",
"concept",
"of",
"a",
"recessive",
"mechanism",
"for",
"the",
"development",
"of",
"human",
"tumors."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | It has been reported that colorectal carcinomas are caused by a multistage process. In patients with familial adenomatous polyposis, carcinoma of the colorectum frequently develops and occasionally polyps develop in the upper gastrointestinal tract. Chromosomal deletion often is found for chromosomes 5, 17, and 18, on which tumor suppressor genes are located. Furthermore, loss of the alleles of loci on chromosome 3 has been reported in renal cell carcinoma, small cell lung carcinoma, and mixed salivary gland tumor in hereditary and sporadic cases. These data support the concept of a recessive mechanism for the development of human tumors. |
20459617 | [
"Distinct",
"high",
"resolution",
"genome",
"profiles",
"of",
"early",
"onset",
"and",
"late",
"onset",
"colorectal",
"cancer",
"integrated",
"with",
"gene",
"expression",
"data",
"identify",
"candidate",
"susceptibility",
"loci.",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci.
## BACKGROUND |
16924054 | [
"The",
"immunohistochemical",
"testing",
"for",
"MSH-2",
"mutations",
" ",
"in",
"DNA",
"mismatch",
"repair",
"genes,",
"mainly",
"MLH-1",
"and",
"MSH-2."
] | [
0,
0,
0,
0,
1,
3,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | The immunohistochemical testing for MSH-2 mutations in DNA mismatch repair genes, mainly MLH-1 and MSH-2. |
24568449 | [
"PubMed,",
"EMBASE,",
"CNKI",
"databases",
"were",
"searched",
"with",
"the",
"last",
"search",
"updated",
"on",
"November",
"5,",
"2013.",
"For",
"miR-196a2",
"rs11614913",
"rs3746444",
" ",
"and",
"colorectal",
"cancer",
"(CRC),",
"which",
"results",
"have",
"been",
"inconclusive."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
11,
11,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | PubMed, EMBASE, CNKI databases were searched with the last search updated on November 5, 2013. For miR-196a2 rs11614913 rs3746444 and colorectal cancer (CRC), which results have been inconclusive. |
19140394 | [
"Studies",
"of",
"expression",
"of",
"BCL-2",
"gene",
"family",
"revealed",
"abnormal",
"regulation",
"of",
"biosynthesis",
"of",
"apoptosis-related",
"proteins",
"in",
"tumour",
"cells",
"involved",
"in",
"the",
"development",
"and",
"progress",
"of",
"neoplastic",
"diseases.",
"Expression",
"of",
"BCL-2",
"proteins",
"in",
"highly",
"differentiated",
"gastric",
"and",
"colonic",
"tumours",
"was",
"roughly",
"1.2",
"times",
"lower",
"than",
"in",
"the",
"normal",
"cells.",
"A",
"3.5-fold",
"rise",
"in",
"BCL-2",
"expression",
"was",
"documented",
"in",
"a",
"group",
"of",
"moderately",
"differentiated",
"adenocarcinomas",
"and",
"undifferentiated",
"tumours.",
"The",
"most",
"striking",
"(9-fold)",
"difference",
"between",
"BCL",
"expression",
"in",
"untransformed",
"and",
"atypical",
"cells",
"was",
"recorded",
"in",
"moderately",
"differentiated",
"metastatic",
"colonic",
"adenocarcinoma.",
"Immunohistochemical",
"studies",
"of",
"BAX",
"expression",
"in",
"untransformed",
"and",
"atypical",
"gastric",
"and",
"colonic",
"cells",
"demonstrated",
"activation",
"of",
"apoptosis-inducing",
"mechanisms",
"in",
"the",
"pathologically",
"changed",
"tissue.",
"Investigations",
"with",
"the",
"use",
"of",
"SSCP",
"showed",
"that",
"20%",
"of",
"the",
"patients",
"had",
"BAX",
"gene",
"mutations",
"BCL-2",
" ",
"gene",
"family",
"revealed",
"abnormal",
"regulation",
"of",
"biosynthesis",
"of",
"apoptosis-related",
"proteins",
"in",
"tumour",
"cells",
"involved",
"in",
"the",
"development",
"and",
"progress",
"of",
"neoplastic",
"diseases.",
"Expression",
"of",
"BCL-2",
" ",
"proteins",
"in",
"highly",
"differentiated",
"gastric",
"and",
"colonic",
"tumours",
"was",
"roughly",
"1.2",
"times",
"lower",
"than",
"in",
"the",
"normal",
"cells.",
"A",
"3.5-fold",
"rise",
"in",
"BCL-2",
" ",
"expression",
"was",
"documented",
"in",
"a",
"group",
"of",
"moderately",
"differentiated",
"adenocarcinomas",
"and",
"undifferentiated",
"tumours.",
"The",
"most",
"striking",
"(9-fold)",
"difference",
"between",
"BCL",
"expression",
"in",
"untransformed",
"and",
"atypical",
"cells",
"was",
"recorded",
"in",
"moderately",
"differentiated",
"metastatic",
"colonic",
"adenocarcinoma.",
"Immunohistochemical",
"studies",
"of",
"BAX",
"expression",
"in",
"untransformed",
"and",
"atypical",
"gastric",
"and",
"colonic",
"cells",
"demonstrated",
"activation",
"of",
"apoptosis-inducing",
"mechanisms",
"in",
"the",
"pathologically",
"changed",
"tissue.",
"Investigations",
"with",
"the",
"use",
"of",
"SSCP",
"showed",
"that",
"20%",
"of",
"the",
"patients",
"had",
"BAX",
"gene",
"mutations",
"affecting",
"codons",
"38",
"to",
"41",
"of",
"exone",
"3.",
"This",
"region",
"was",
"found",
"to",
"contain",
"octadeoxyguanosine",
"G8",
"sequence.",
"The",
"mutations",
"codons",
"38",
"to",
"41",
" ",
"of",
"exone",
"3.",
"This",
"region",
"was",
"found",
"to",
"contain",
"octadeoxyguanosine",
"G8",
"sequence.",
"The",
"mutations",
"were",
"caused",
"by",
"deletion",
"of",
"G7",
"or",
"insertion",
"deletion",
"exone",
"3",
"BCL",
" ",
"expression",
"in",
"untransformed",
"and",
"atypical",
"cells",
"was",
"recorded",
"in",
"moderately",
"differentiated",
"metastatic",
"colonic",
"adenocarcinoma.",
"Immunohistochemical",
"studies",
"of",
"BAX",
" ",
"expression",
"in",
"untransformed",
"and",
"atypical",
"gastric",
"and",
"colonic",
"cells",
"demonstrated",
"activation",
"of",
"apoptosis-inducing",
"mechanisms",
"in",
"the",
"pathologically",
"changed",
"tissue.",
"Investigations",
"with",
"the",
"use",
"of",
"SSCP",
"showed",
"that",
"20%",
"of",
"the",
"patients",
"had",
"BAX",
" ",
"gene",
"mutations",
"affecting",
"codons",
"38",
"to",
"41",
"of",
"exone",
"3.",
"This",
"region",
"was",
"found",
"to",
"contain",
"octadeoxyguanosine",
"G8",
"sequence.",
"The",
"mutations",
"were",
"caused",
"by",
"deletion",
"of",
"G7",
"or",
"insertion",
"of",
"G9."
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
7,
8,
8,
8,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
3,
3,
7,
8,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
1,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | Studies of expression of BCL-2 gene family revealed abnormal regulation of biosynthesis of apoptosis-related proteins in tumour cells involved in the development and progress of neoplastic diseases. Expression of BCL-2 proteins in highly differentiated gastric and colonic tumours was roughly 1.2 times lower than in the normal cells. A 3.5-fold rise in BCL-2 expression was documented in a group of moderately differentiated adenocarcinomas and undifferentiated tumours. The most striking (9-fold) difference between BCL expression in untransformed and atypical cells was recorded in moderately differentiated metastatic colonic adenocarcinoma. Immunohistochemical studies of BAX expression in untransformed and atypical gastric and colonic cells demonstrated activation of apoptosis-inducing mechanisms in the pathologically changed tissue. Investigations with the use of SSCP showed that 20% of the patients had BAX gene mutations BCL-2 gene family revealed abnormal regulation of biosynthesis of apoptosis-related proteins in tumour cells involved in the development and progress of neoplastic diseases. Expression of BCL-2 proteins in highly differentiated gastric and colonic tumours was roughly 1.2 times lower than in the normal cells. A 3.5-fold rise in BCL-2 expression was documented in a group of moderately differentiated adenocarcinomas and undifferentiated tumours. The most striking (9-fold) difference between BCL expression in untransformed and atypical cells was recorded in moderately differentiated metastatic colonic adenocarcinoma. Immunohistochemical studies of BAX expression in untransformed and atypical gastric and colonic cells demonstrated activation of apoptosis-inducing mechanisms in the pathologically changed tissue. Investigations with the use of SSCP showed that 20% of the patients had BAX gene mutations affecting codons 38 to 41 of exone 3. This region was found to contain octadeoxyguanosine G8 sequence. The mutations codons 38 to 41 of exone 3. This region was found to contain octadeoxyguanosine G8 sequence. The mutations were caused by deletion of G7 or insertion deletion exone 3 BCL expression in untransformed and atypical cells was recorded in moderately differentiated metastatic colonic adenocarcinoma. Immunohistochemical studies of BAX expression in untransformed and atypical gastric and colonic cells demonstrated activation of apoptosis-inducing mechanisms in the pathologically changed tissue. Investigations with the use of SSCP showed that 20% of the patients had BAX gene mutations affecting codons 38 to 41 of exone 3. This region was found to contain octadeoxyguanosine G8 sequence. The mutations were caused by deletion of G7 or insertion of G9. |
19706845 | [
"A",
"novel",
"polymorphism",
"rs1329149",
"of",
"CYP2E1",
"and",
"a",
"known",
"polymorphism",
"rs671",
"of",
"ALDH2",
"of",
"alcohol",
"metabolizing",
"enzymes",
"are",
"associated",
"with",
"colorectal",
"cancer",
"in",
"a",
"southwestern",
"Chinese",
"population.",
"\n\n\n",
"##",
"BACKGROUND"
] | [
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0,
0
] | A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population.
## BACKGROUND |