Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families

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dc.citation.epage836en_US
dc.citation.issueNumber6en_US
dc.citation.spage831en_US
dc.citation.volumeNumber73en_US
dc.contributor.authorWang, Q.en_US
dc.contributor.authorDesseigne, F.en_US
dc.contributor.authorLasset, C.en_US
dc.contributor.authorSaurin J. C.en_US
dc.contributor.authorNavarro, C.en_US
dc.contributor.authorYagci, T.en_US
dc.contributor.authorKeser I.en_US
dc.contributor.authorBagci, H.en_US
dc.contributor.authorLuleci, G.en_US
dc.contributor.authorGelen, T.en_US
dc.contributor.authorChayvialle, J.-A.en_US
dc.contributor.authorPuisieux, A.en_US
dc.contributor.authorOzturk, M.en_US
dc.date.accessioned2016-02-08T10:46:11Z
dc.date.available2016-02-08T10:46:11Z
dc.date.issued1997en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractHereditary non-polyposis colon cancer (HNPCC) is a common hereditary disease characterized by a predisposition to an early onset of colorectal cancer. The majority of the HNPCC families carry germline mutations of either hMSH2 or hMLH1 genes, whereas germline mutations of hPMS1 and hPMS2 genes have rarely been observed. Almost all of the germline mutations reported so far concern typical HNPCC families. However, there are families that display aggregations of colon cancer even though they do not fulfil all HNPCC criteria (incomplete HNPCC families) as well as sporadic cases of early onset colon cancers that could be related to germline mutations of these genes. Therefore, we screened germline mutations of hMSH2 and hMLH1 genes in 3 groups of patients from France and Turkey: typical HNPCC (n = 3), incomplete HNPCC (n = 9) and young patients without apparent familial history (n = 7). By in vitro synthesis of protein assay, heteroduplex analysis and direct genomic sequencing, we identified 1 family with hMSH2 mutation and 5 families with hMLH1 mutations. Two of the 3 HNPCC families (66%) displayed hMLH1 germline mutations. Interestingly, 4 of 9 families with incomplete HNPCC (44%) also displayed mutations of hMSH2 or hMLH1 genes. In contrast, no germline mutation of these genes was found in 7 young patients. Our results show that germline mutations of hMSH2 and hMLH1 genes contribute to a significant fraction of familial predisposition to colon cancer cases that do not fulfil all diagnostic criteria of HNPCC. © 1997 Wiley-Liss, Inc.en_US
dc.description.provenanceMade available in DSpace on 2016-02-08T10:46:11Z (GMT). No. of bitstreams: 1 bilkent-research-paper.pdf: 70227 bytes, checksum: 26e812c6f5156f83f0e77b261a471b5a (MD5) Previous issue date: 1997en
dc.identifier.issn0020-7136
dc.identifier.urihttp://hdl.handle.net/11693/25522
dc.language.isoEnglishen_US
dc.source.titleInternational Journal of Canceren_US
dc.subjectCarrier proteinen_US
dc.subjectDNAen_US
dc.subjectDNA binding proteinen_US
dc.subjectMLH1 protein, humanen_US
dc.subjectMSH2 protein, humanen_US
dc.subjectNuclear proteinen_US
dc.subjectOncoproteinen_US
dc.subjectProtein MSH2en_US
dc.subjectTumor proteinen_US
dc.titleGermline hMSH2 and hMLH1 gene mutations in incomplete HNPCC familiesen_US
dc.typeArticleen_US

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