bluuebunny/crossref_metadata_2025_split huggingface dataset:
TP53 tumor suppressor gene: A model for investigating human mutagenesis
Authors: Fromentel Claude Caron De , Soussi Thierry 
Published: February 2007

AbstractMore than 350 independent point mutations of the TP53 gene, found in a wide variety of human cancers, were compiled and analysed. From this study, we confirm the presence of four hot‐spot regions which colocalize with some highly conserved domains of the protein. We also define a new hot‐spot region which is observed predominantly in lung tumors. Analysis of the mutational events suggests the direct involvement of environmental carcinogens in lung tumors and hepatocarcinomas, and spontaneous mutagenesis generating essentially CpG transitions in most of the remaining ones. Furthermore, we demonstrate in this work that the TP53 gene is an informative model with which to study the molecular mechanisms of mutagenesis in the human genome.
Cytogenetic analysis of 57 primary prostatic adenocarcinomas
Authors: Lundgren Rolf , Mandahl Nils , Heim Sverre , Mitelman Felix , Henrikson Hans , Limon Janusz 
Published: February 2007

AbstractCytogenetic analysis after short‐term culture in vitro of primary tumor samples was attempted in 82 patients with prostatic cancer. Tumor material was obtained by radical prostatectomy or transurethral resection. Successful cytogenetic studies were performed on 57 tumors of which five were well, 30 moderately, and 22 poorly differentiated adenocarcinomas. Only normal karyotypes were found in 24 tumors. Structural nonclonal aberrations were detected in 18 and clonal karyotypic abnormalities in 15 tumors. The most common clonal numerical aberration was loss of the Y chromosome; a missing Y was found in six tumors, in three of these as the sole anomaly. Clonal structural chromosomal rearrangements, usually accompanied by numerical changes, were detected in 12 tumors. The rearrangements involved 18 of the 22 autosomes and the X chromosome. Chromosomes 1, 7, and 10 were most frequently affected. Deletions, duplications, inversions, insertions, and balanced as well as unbalanced translocations were represented. The breakpoints in chromosome 1 were scattered along both the short and long arms with no obvious clustering, whereas those in chromosomes 7 and 10 were clustered at bands 7q22 (two deletions and two duplications in four different tumors) and 10q24 (two translocations, one deletion, and one inversion in four tumors). One additional tumor displayed a derivative chromosome 10 with a breakpoint in 10q23, and one had monosomy 10. Altogether, these abnormalities resulted in loss of 10q24→qter in five tumors. Monosomy 8 and rearrangements of the short arm of chromosome 8 leading to loss of 8p21→pter were seen in four tumors. Double minute chromosomes were found in two tumors.
Chromosome aberrations in 35 primary ovarian carcinomas
Authors: Pejovic Tanja , Heim Sverre , Mitelman Felix , Mandahl Nils , Flodérus Ulla‐Maria , Furgyik Stefan , Willén Helena , Baldetorp Bo , Himmelmann Anna , Elmfors Bengt , Helm Göran 
Published: February 2007

AbstractCytogenetic analysis was performed on short‐term cultures of primary ovarian carcinomas from 62 patients. Cytogenetic analysis was successful in 59 cases. Clonal chromosome aberrations were detected in 35 tumors. Only numerical changes or a single structural change were found in five carcinomas: trisomy 12 was the sole anomaly in two tumors, one tumor had the karyotype 50,XX, + 5, + 7, + 12, + 14, a fourth tumor had a balanced t(l;5), and the fifth tumor had an unbalanced t(8; 15). The fact that four of these five carcinomas were well differentiated suggests that simple karyotypic changes are generally characteristic of these less aggressive ovarian tumors. The majority of the cytogenetically abnormal tumors (n = 30) had complex karyotypes, with both numerical and structural aberrations and often hypodiploid or near‐triploid stemlines. The numerical imbalances (comparison with the nearest euploid number) were mostly losses, in order of decreasing frequency – 17, – 22, – 13, –8, – X, and – 14. The structural aberrations were mostly deletions and unbalanced translocations. Recurrent loss of genetic material affected chromosome arms 1p, 3p, 6q, and 11p. The breakpoints of the clonal structural abnormalities clustered to several chromosome bands and segments: 19p13, 11p13–15, 1q21–23, 1p36, 19q13, 3p12–13, and 6q21–23. The most consistent change (16 tumors) was a 19p + marker, and in 12 of the tumors the 19p + markers looked alike.
Genetic alterations of the tumour suppressor gene regions 3p, 11p, 13q, 17p, and 17q in human breast carcinomas
Authors: Andersen Tone I. , Gaustad Astrid , Børresen Anne‐Lise , Farrants George W. , Nesland Jahn M. , Ottestad Lars , Tveit Kjell M. 
Published: February 2007

AbstractFifty‐nine primary breast carcinomas and 11 metastases were examined to identify genetic alterations in the tumour suppressor gene regions 3p, 11p, 13q, 17p, and 17q. Loss of heterozygosity (LOH) was frequently observed on chromosome arms 17p (p144D6 lost in 75%, pYNZ22.1 in 55%, and TP53 in 48% of the primary tumours), 13q (RBI lost in 40% of the primary tumours), and 17q (pRMU3 lost in 35%, pTHH59 in 29%, and NM23HI in 26% of the primary tumours). Loss of all the markers except p144D6 was observed even more frequently in the metastases. Pairwise comparisons for concordance of allele losses on 17p indicated that there might be two genes on 17p implicated in breast cancer development; the TP53 gene and a gene located close to the p144D6 and pYNZ22.1 markers. LOH of the RBI gene was associated with LOH of pYNZ22.1 and p144D6, but not with LOH of TP53. LOH of RBI and TP53 was associated with occurrence of ductal carcinomas, RBI and p144D6 losses with tumour size, and p144D6 losses with positive node status as well. LOH of TP53 and the three 17q markers NM23HI, pTHH59, and pRMU3 was most frequently observed in tumours from postmenopausal women. p144D6 losses occurred most frequently in progesterone receptor‐negative tumours, whereas pTHH59 losses occurred most frequently in oestrogen receptor‐negative tumours. LOH of the investigated loci was not associated with ERBB2 protooncogene amplification, with positive family history of breast cancer, or with survival.
Reciprocal translocation t(12;22)(q13;q13) in clearcell sarcoma of tendons and aponeuroses
Authors: Stenman Göran , Kindblom Larsgunnar , Angervall Lennart 
Published: February 2007

AbstractClearcell sarcoma is a rare soft tissue sarcoma that displays certain similarities to malignant melanoma. In this paper we describe the karyotypic findings and in vitro growth characteristics of a shorttermcultured clearcell sarcoma. The cultured tumor cells had preserved immunohistochemical characteristics and certain ultrastructural features of the primary tumor, including positivity for vimentin, S‐100 protein, and a melanomaassociated antigen, supporting the authenticity of the cultured cells. Cytogenetic analysis revealed an abnormal stemline karyotype of 49,XY, –1, + 8, + 8, + 12, + der(l)t(1;?)(p36.1 –.3;?), t(12,22)(q13;q13). A similar or identical t(12;22) was recently reported in two of four clear‐cell sarcomas. It is suggested that the t(12;22)(q13;q13) is a primary cytogenetic abnormality in clear‐cell sarcoma and distinguishes this tumor type from malignant melanoma.
Chromosomal abnormalities in skin following total body or total lymphoid irradiation
Authors: Rubin Charles M. , Nesbit Mark E. , Kersey John H. , Arthur Diane C. , Kim Tae H. 
Published: February 2007

AbstractPatients undergoing bone marrow transplantation often receive total body or total lymphoid irradiation as part of the conditioning regimen prior to marrow infusion. The cytogenetic effects of this therapy on skin fibroblasts were studied. Fibroblast cultures from eight skin biopsies were harvested in early passages for G‐banded chromosome analysis. Four biopsies were from three patients who had high‐dose cyclophosphamide and total body radiotherapy; one was from within and one was from outside the radiation field of a patient who had high‐dose cyclophosphamide and lymphoid radiotherapy, one was from a patient who had combination chemotherapy alone, and one was from a normal control. No abnormal mitoses were found in the control or the patient who had chemotherapy alone, and only two of 30 mitoses from skin outside the lymphoid radiotherapy field were abnormal. However, most cells (49–88%) from five biopsies within radiotherapy fields were abnormal. Typically, abnormal karyotypes were pseudodiploid and contained multiple balanced rearrangements, of which reciprocal translocations were most common. The data indicate that the radiotherapy used for bone marrow transplantation induces extensive, sustained chromosome abnormalities in vivo in skin fibroblasts.
Abnormalities of chromosomes 7 and 22 in human malignant pleural mesothelioma: Correlation between southern blot and cytogenetic analyses
Authors: Tiainen Marianne , Kere Juha , Knuutila Sakari , Tammilehto Lauri , Mattson Kann 
Published: February 2007

AbstractSouthern blot hybridization studies were performed on 23 mesothelioma primary tumor specimens to detect chromosome 1‐, 7‐, and 22‐specific numerical changes, gene amplifications, and gene rearrangements. The molecular findings were compared with previous cytogenetic findings. No gene rearrangements or amplifications were detected. A numerical abnormality of chromosome 7 was detected by Southern blot analysis in two cases in which no numerical abnormality had been detected by the previous chromosome study. A numerical aberration of chromosome 22 was detected in five cases, which was compatible with the cytogenetic finding of monosomy 22 in these cases. The Southern blot results for the copy numbers of chromosomes 7 and 22 were concordant with the cytogenetic findings in 65%–80% of the cases.
Molecular cytogenetic analysis of a complex t(10;22;11) translocation in ewing's sarcoma
Authors: Speleman Frank , Roy Nadine Van , Leroy Jules G. , Dierick Anne Marie , Uyttendaele Dirk , Wiegant Joop 
Published: February 2007

AbstractFluorescence in situ hybridization (FISH) using chromosome‐specific plasmid libraries and chromosome region‐specific DNA markers allowed the characterization of a t(10;22;11) (p11.2;q12;q24) in a Ewing's sarcoma (ES). This study illustrates the usefulness of molecular cytogenetic analysis of ES, especially for determining the localization of the translocated 11q24–25 segment in complex or variant translocations.
Different localization of epstein‐barr virus genome in two subclones of the burkitt lymphoma cell line namalwa
Authors: Gargano Silvia , Caporossi Daniela , Gualandi Giampiero , Calef Enrico 
Published: February 2007

AbstractThe Epstein‐Barr virus genome contained in the Burkitt lymphoma line Namalwa was previously localized to the short arm of chromosome I. Analysis of a different subline of the same Namalwa line by means of Southern analysis carried out on genomic DNA, as well as in situ hybridization, showed a localization on the X chromosome.
Loss of chromosome 3 alleles and multiplication of chromosome 8 alleles in uveal melanoma
Authors: Horsthemke Barnhard , Prescher Gabriele , Becher Reinhard , Bornfeld Norbert 
Published: February 2007

AbstractUveal melanoma is the most frequent primary intraocular tumor. The etiology is unknown. Using neutral DNA polymorphisms on chromosomes 2, 3, and 8, we have detected loss of chromosome 3 alleles in 8 of 13 tumors and multiplication of chromosome 8 alleles in 6 of 11 tumors. No anomalies at a locus on chromosome 2 were found in 10 of 10 tumors. These results confirm and extend previous cytogenetic findings and suggest that a tumor suppressor gene on chromosome 3 and an oncogene on chromosome 8 may be involved in the formation or progression of this tumor.
Cytogenetic analysis by chromosome painting using dop‐pcr amplified flow‐sorted chromosomes
Authors: Telenius HÅKan , Ponder Bruce A. J. , Tunnacliffe Alan , Pelmear Adèle H. , Carter Nigel P. , Ferguson‐Smith Malcolm A. , Behmel Annemarie , Nordenskjöld Magnus , Pfragner Roswitha 
Published: February 2007

AbstractA novel polymerase chain reaction (PCR) technique has been combined with chromosome flow sorting to characterise two lymphoblastoid cell lines and one medullary thyroid carcinoma cell line carrying translocations close to the locus for multiple endocrine neoplasia type 2A (MEN 2A). Five hundred copies of the derivative chromosome(s) were flow sorted from each cell line and amplified by degenerate oligonucleotide‐primed–polymerase chain reaction (DOP‐PCR). This generated pools of DNA sequences corresponding to the abnormal chromosomes, which were then used as probes in fluorescence in situ hybridisation (FISH) experiments on normal metaphase cells. The resultant chromosome paints revealed the portions of the normal chromosomes related to those involved in the translocations. By this technique, translocation breakpoints in bands p15, q11.2, and q21 of chromosome 10 were defined in the above cell lines, in two cases refining previous cytogenetic data. This study shows that flow sorting of aberrant chromosomes and chromosome painting can be used as a rapid aid to cytogenetic analysis, particularly in cases of difficult karyotypes, such as tumours. Furthermore, the DOP‐PCR technique described here will have applications to other areas of genome analysis, such as cloning of new markers; its design will allow a general and representative amplification to occur from any starting DNA in any species.
Low chromosome number in chromophobe renal cell carcinomas
Authors: Kovacs Angela , Kovacs Gyula 
Published: February 2007

AbstractCytogenetic analysis revealed low chromosome number, telomeric association, and pulverisation of chromosomes in three chromophobe renal cell carcinomas. One fully karyotyped and a previously published case showed the common loss of chromosomes 1, 2, 6, 10, 13, 17, and 21.
Detection of amplified dna sequences in human tumor cell lines by fluorescence in situ hybridization
Authors: Bar‐Am Irit , Mor Orna , Shiloh Yosef , Avivi Lydia , Yeger Herman 
Published: February 2007

AbstractAn unambiguous and rapid characterization of amplified DNA sequences in tumor cells is important for the understanding of neoplastic progression. This study was conducted to evaluate the potential of fluorescence in situ hybridization (FISH) to identify such amplified DNA sequences in human tumor cell lines. Applying this technique, we followed the metaphase location and interphase position of amplified DNA sequences corresponding to the SAMK, MYC, and MYCN genes in four cell lines derived from human tumors: two gastric carcinoma lines (KATO III and SNU‐16), a neuroblastoma (NUB‐7), and a neuroepithelioma (NUB‐20) line. In metaphase cells of KATO III, NUB‐7, and NUB‐20 lines, the amplified regions were clearly visible and easily identified at an intrachromosomal location: in KATO III and NUB‐7 at a terminal position and in NUB‐20 at an interstitial position. In SNU‐16, on the other hand, the amplified SAMK and MYC sequences were identified in extrachromosomal double minute chromosomes (DMs). In this line, the SAMK and MYC sequences were coamplified in the same cells and were colocated on the same DMs. FISH also allowed the identification of amplified DNA sequences in nondividing cells, enabling us to distinguish, at interphase, whether the amplification gave rise to intrachromosomal amplified regions (IARs) or to extrachromosomal DMs. The FISH technique also allowed us to determine at metaphase as well as at interphase the extent of amplification and the size of the IARs.
Rearrangements of chromosome arm 3q in poorly differentiated nasopharyngeal carcinoma
Authors: Waghray Manjula , Parhar Ranjit S. , Al‐Sedairy Sultan , Taibah Khalid 
Published: February 2007

AbstractCell lines were established from fresh tumor biopsies from two Saudi patients with poorly differentiated nasopharyngeal carcinoma (NPC). Cytogenetic analysis on Giemsa‐banded metaphase cells revealed complex, abnormal karyotypes in both patients with modal chromosome numbers of 77 and 52. A der(3)dup(3)(q25‐q2?7) or t(3;?)(q27;?) was observed in both cell lines. The rearrangements involving chromosomes X, 1, 4, 6, 7, 8, 12, 13, 15, 17, and 22 in the first patient and 1, 6, and 22 in the second patient could represent clonal evolution.
Translocation t(5;19): A recurrent change in thyroid follicular adenoma
Authors: Roque Lúcia , Clode Ana , Soares Jorge , Castedo Sérgio 
Published: February 2007

AbstractThe cytogenetic study of a follicular thyroid adenoma revealed a t(5;19)(q13;q13.3). This is the second report of a translocation between chromosomes 5 and 19 in a thyroid follicular adenoma.
Characterization of the submicroscopic deletion in the small‐cell lung carcinoma (SCLC) cell line U2020
Authors: Drabkin Harry A. , Mendez Mike J. , Rabbitts Pamela H. , Varkony Terry , Bergh Jonas , Schlessinger Joseph , Erickson Paul , Gemmill Robert M. 
Published: February 2007

AbstractThe small‐cell lung carcinoma cell line U2020 contains a submicroscopic, homozygous deletion that removes a chromosomal segment within 3p13‐p14, including the locus D3S3. We have sublocalized 49 additional probes to the 3p13‐p14.2 region and have identified 7 new DNA markers that arise from within the U2020 deletion. The estimated size of the deletion, based on marker density, is approximately 4–5 megabases (Mb). Including D3S3, 7 of the 8 markers have been linked by pulsed‐field gel (PFG) electrophoresis over an area of approximately 2 Mb. Including the one unlinked marker, PFG analysis accounts for about 3 Mb of the region. The U2020 deletion appears confined to the 3p13‐p14.2 region and does not include the candidate tumor suppressor gene, protein‐tyrosine phosphatase gamma (PTPG).
Viral integration and fragile sites in human papillomavirus‐lmmortalized human keratinocyte cell lines
Authors: Smith Patricia P. , Friedman Cynthia L. , Bryant Eileen M. , McDougall James K. 
Published: February 2007

AbstractHuman papillomavirus (HPV) types 16 and 18 integration sites were mapped in six HPV‐immortalized human keratinocyte cell lines by fluorescence in situ hybridization (FISH). Mapping of HPV sequences in these cell lines revealed that HPV integration varied in copy number and location but that integration sites were stable over extended passages in culture. Integration occurred at different sites throughout the genome and did not correspond to the location of specific cellular genes. However, integration sites were consistent with integration near or within known fragile sites in five of the six cell lines. Induction of aphidicolin‐sensitive fragile sites in one cell line prior to in situ hybridization revealed that integrated HPV DNA was disrupted by fragile‐site expression, suggesting that integration occurred within a fragile site.
Translocation t(11; 14)(q 13;q32) in chronic lymphoid disorders
Authors: Brito‐Babapulie V. , Ellis J. , Matutes E. , Oscier D. , Khokhar T. , MacLennan K. , Catovsky D. 
Published: February 2007

AbstractThe translocation t( 11; I4)(q 13;q32) has been described in a spectrum of B‐lymphoproliferative diseases and involves a putative oncogene, BCLI, which maps to chromosome band 11q13. Recent evidence indicates that this abnormality may delineate particular subtypes of lymphoma, such as intermediate lymphocytic and centrocytic lymphomas. Thus the possible significance of the t(111;14) within B‐cell disorders should be reexamined in the light of a more objective approach to classifying these diseases by morphology, histology, and immunophenotype. We describe 16 patients with t(11;14)(q13;q32) from a series of 90 patients with chronic lymphoid disorders in whom clonal chromosome abnormalities were detected. All the cases were leukemic: prolymphocytic (B‐PLL; 4/15 cases), chronic lymphocytic leukemia (CLL) with increase in prolymphocytes (2/9 cases), or non‐Hodgkin lymphoma in leukemic phase, intermediate (3/4 cases), lymphoplasmacytic (2/2 cases), splenic lymphoma with villous lymphocytes (4/18 cases), and follicular (I case). None of the CLL (25) or hairy cell leukemia cases (15) had t(11;14). Our findings showed that t(11;14) occurred in leukemias of mature B cells with lymphoplasmacytic features as judged by morphology and immunophenotype.
Chromosome changes in a case of hibernoma
Authors: Dal Cin Paola , Van Damme Boudewijn , Hoogmartens Michel , Van Den Berghe Herman 
Published: February 2007

AbstractCytogenetic analysis of a rare adipose tissue tumor, hibernoma, a benign proliferation of the brown fat, is presented for the first time. A complex translocation involving bands 1p36, 2q33, 5q22, and 11q13 was found as the sole chromosome abnormality.
Non‐random abnormalities of chromosomes 3, 6, and 8 associated with posterior uveal melanoma
Authors: Sisley Karen , Cottam David W. , Rennie Ian G. , Parsons M. Andrew , Potter Anthony M. , Potter Christopher W. , Rees Robert C. 
Published: February 2007

AbstractWe present ten cases of posterior uveal melanoma which were karyotyped after short‐term culture. One tumour had a normal chromosome complement. The remaining nine tumours were cytogenetically abnormal, with chromosomes 3, 6, 8, 11, and 13 most frequently involved. Abnormalities of chromosome 13 were seen in two cases, chromosome 11 in three cases, and chromosomes 3, 6, and 8 in five cases. Four tumours, all derived from the ciliary body, demonstrated monosomy 3 and i(8q), confirming the involvement of these aberrations with a subgroup of uveal melanomas arising from the ciliary body.
Whole‐arm t(1;16) and i(1q) as sole anomalies identify gain of 1 q as a primary chromosomal abnormality in breast cancer
Authors: Pandis Nikos , Heim Sverre , Bardi Georgia , Idvall Ingrid , Mandahl Nils , Mitelman Felix 
Published: February 2007

AbstractCytogenetic analysis of four ductal breast carcinomas revealed net gain of 1 q in all tumors. In the first tumor, the only change was that one chromosome 16 was replaced by a derivative chromosome consisting of 16p and 1q. The same unbalanced whole‐arm translocation was also found in the second tumor, as the only aberration in one of four abnormal clones. In the last two cases, which also were characterized by cytogenetically unrelated clones, an extra i(1q) was present in one clone in both tumors as the sole aberration. Our findings suggest that gain of 1 q is a primary chromosomal abnormality in breast carcinomas, in the sense that it is an early event that precedes the acquisition of more complex changes.