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Exclusion mapping of a third HNPCC locus in a large Lynch I kindred

Journal Article · · American Journal of Human Genetics
OSTI ID:133542
; ;  [1]
  1. Hopital St-Francois d`Assise, Quebec (Canada); and others
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) accounts for 5-10% of all the cases of colorectal cancers. HNPCC can be classified in two clinical forms: (1) Hereditary Site-Specific Colorectal Cancer (HSSCC or Lynch I) and (2) colon cancer associated with extracolonic cancers (Lynch II). Segregation analyses show an autosomal dominant mode of inheritance. In order to identify the HNPCC gene involved in a large Canadian kindred, we performed linkage analysis using microsatellites spanning 9 candidate regions. For all loci tested, the lod score data obtained were negative. Our results demonstrate that the genes hMSH1 and hMLH1 recently reported in HNPCC are not linked in this family. Five loci frequently altered in colorectal tumor cells, APC, MCC, K-ras, p53 and DCC and the DRA gene whose expression is confined to the colon mucosa cells and deregulated in colonic adenomas, are also unlinked to HNPCC susceptibility in this family. We have also excluded chromosomes 4, 5, 8, 11 and 17 as containing the cancer predisposition gene in this family.
OSTI ID:
133542
Report Number(s):
CONF-941009--
Journal Information:
American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
Country of Publication:
United States
Language:
English