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amia_split_0404_dev

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[ "##", "CONCLUSIONS" ]

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[ "##", "RESULTS" ]

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[ "Individuals", "with", "intermediate", "familial", "risk", "for", "colorectal", "cancer", "are", "highly", "interested", "in", "genomic", "testing", "for", "modest", "increases", "in", "disease", "risk,", "specifically", "unmarried", "persons,", "younger", "age", "groups", "and", "those", "with", "greater", "cancer", "fear." ]

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[ "##", "RESULTS" ]

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[ "##", "PURPOSE" ]

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[ "##", "CONCLUSIONS" ]

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[ "##", "METHODS" ]

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[ "##", "PATIENTS" ]

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[ "##", "METHODS" ]

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[ "##", "MATERIALS", "AND", "METHODS" ]

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[ "The", "genotype", "\"A/T\"", "of", "rs12413624", "in", "PRLHR", "gene", "was", "associated", "with", "a", "decreased", "risk", "of", "colorectal", "cancer", "in", "allele", "model", "analysis", "[odds", "ratio", "(OR)", " ", "=", " ", "0.81;", "95%", "confidence", "interval", "(CI)", " ", "=", " ", "0.68-0.97;", "p", " ", "=", " ", "0.018]", "and", "log-additive", "model", "analysis", "(OR", " ", "=", " ", "0.81;", "95%", "CI", " ", "=", " ", "0.66-0.98;", "p", " ", "=", " ", "0.032).", "The", "genotype", "\"A/G\"", "of", "rs1665650", "in", "HSPA12A", "gene", "was", "associated", "with", "a", "decreased", "risk", "of", "gastric", "cancer", "in", "overdominant", "model", "analysis", "(OR", " ", "=", " ", "0.77;", "95%", "CI", " ", "=", " ", "0.60-0.99;", "p", " ", "=", " ", "0.038)." ]

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[ "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", "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", " ", "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", "SNP309", "MDM2", " ", "SNP309", "T>G", " ", "alone", "or", "in", "combination", "with", "the", "TP53", " ", "R72P", "polymorphism", "does", "not", "appear", "to", "influence", "disease", "expression", "and", "age", "of", "diagnosis", "of", "colorectal", "cancer", "in", "HNPCC", "patients." ]

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[ "Combined", "use", "of", "molecular", "and", "biomarkers", "for", "presymptomatic", "carrier", "risk", "assessment", "in", "familial", "adenomatous", "polyposis:", "implications", "for", "screening", "guidelines." ]

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[ "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." ]

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[]

[]

[ "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", "BRCA1", "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", "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", "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", "promoter", "by", "BRCA1", "is", "independent", "of", "cellular", "p53", "function.", "With", "the", "5'-deletion", "analysis,", "the", "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.", "Taken", "together,", "these", "results", "demonstrate", "that", "the", "mechanism", "by", "which", "BRCA1", "induces", "GADD45", "is", "mainly", "through", "the", "transactivation", "of", "the", "GADD45", "promoter,", "further", "demonstrating", "the", "evidence", "that", "GADD45", "acts", "as", "one", "of", "the", "BRCA1-regulated", "genes.", "Oncogene", "(2000)", "19,", "4050", "-", "4057." ]

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[ "Immediate", "prophylactic", "colectomy;", "delayed", "colectomy", "on", "the", "basis", "of", "age,", "adenoma,", "or", "diagnosis", "of", "colorectal", "cancer;", "and", "endoscopic", "surveillance.", "Prophylactic", "surgical", "options", "were", "proctocolectomy", "with", "ileoanal", "anastomosis", "and", "subtotal", "colectomy", "with", "ileorectal", "anastomosis." ]

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[]

[]

[ "##", "CONCLUSION" ]

[ 0, 0 ]

[ "##", "CONCLUSIONS" ]

[ 0, 0 ]

[]

[]

[ "We", "observed", "a", "strong", "correlation", "of", "BRAF", "mutation", "with", "hMLH1", "promoter", "methylation.", "BRAF", "mutations", "were", "present", "in", "13", "of", "15", "(87%)", "of", "the", "colorectal", "cell", "lines", "and", "cancers", "with", "methylated", "hMLH1,", "whereas", "only", "4", "of", "91", "(4%)", "of", "the", "cell", "lines", "and", "cancers", "with", "unmethylated", "hMLH1", "carried", "the", "mutations", "(P", "<", "0.00001).", "Sixteen", "of", "17", "mutations", "were", "at", "residue", "599", "(V599E).", "A", "BRAF", "mutation", "was", "also", "identified", "at", "residue", "463", " ", "(", "G463V", ")", "in", "one", "cell", "line.", "In", "addition,", "BRAF", "mutations", "were", "not", "found", "in", "any", "cancers", "or", "cell", "lines", "with", "K-ras", "mutations", "methylation", " ", "status", "of", "the", "hMLH1", "gene", "was", "measured", "by", "either", "sequencing", "or", "restriction", "enzyme", "digestion", "after", "NaHSO(3)", "treatment." ]

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[ "##", "CONCLUSION" ]

[ 0, 0 ]

[ "These", "results", "demonstrate", "that", "Egr-1", "regulates", "NGX6", "gene", "transcription", "through", "an", "overlapping", "Sp1/Egr-1", "binding", "site", "as", "a", "positive", "regulator", "of", "NGX6", "Egr-1", "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", "Sp1", "Egr-1", " ", "overlapping", "site", "in", "the", "promoter.", "\n\n\n", "##", "BACKGROUND" ]

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[ "Somatic", "variants,", "which", "occur", "in", "the", "genome", "of", "all", "cells,", "are", "well", "accepted", "to", "play", "a", "critical", "role", "in", "cancer", "development,", "as", "their", "accumulation", "in", "genes", "could", "affect", "cell", "proliferations", "and", "cell", "cycle." ]

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[ "##", "RESULTS" ]

[ 0, 0 ]

[ "##", "CONCLUSIONS" ]

[ 0, 0 ]

[ "##", "RESULTS" ]

[ 0, 0 ]

[ "[Immunochemical", "evidence", "of", "a", "mutated", "p53", "protein", "expressed", "in", "human", "colorectal", "adenocarcinoma]." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "##", "MATERIAL", "AND", "METHODS" ]

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[ "In", "recent", "years", "persons", "at", "risk", "for", "colorectal", "cancers", "(CRC)", "have", "been", "subjected", "to", "follow-up", "with", "colonoscopy", "in", "many", "centres.", "There", "is,", "however,", "limited", "knowledge", "about", "the", "effect", "of", "such", "interventions.", "The", "objective", "of", "this", "study", "was", "to", "report", "the", "results", "of", "our", "observations", "during", "the", "past", "15", "years." ]

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[ "Polymorphisms", "in", "the", "cytochrome", "P450", "CYP1A2", "gene", "(CYP1A2)", "in", "colorectal", "cancer", "patients", "and", "controls:", "allele", "frequencies,", "linkage", "disequilibrium", "and", "influence", "on", "caffeine", "metabolism.", "\n\n\n", "##", "AIMS" ]

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