Germline HNPCC gene variants have little influence on the risk for sporadic colorectal cancer.

Journal article

Hereditary non-polyposis colorectal cancer (HNPCC) is a syndrome of inherited bowel and other cancers that has been said to account for up to 15% of all colorectal carcinomas (CRCs). HNPCC can now be diagnosed at the molecular level by detecting germline mutations in genes involved in mismatch repair. A current problem is to determine the prevalence of HNPCC mutations in colon cancer patients with limited or no family history, especially in cases of early onset. We have identified 50 cases of...

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Authors: Tomlinson, I; Beck, N; Homfray, T; Harocopos, C; Bodmer, W

• Journal: Journal of medical genetics
• Volume: 34
• Issue: 1
• Pages: 39-42
• Publication date: 1997-01-01
• DOI: 10.1136/jmg.34.1.39
• EISSN: 1468-6244
• ISSN: 0022-2593
• Language: English
• Keywords: Adolescent; Colorectal Neoplasms, Hereditary Nonpolyposis; Neoplasm Staging; Adult; Polymerase Chain Reaction; Retrospective Studies; Middle Aged; Genetic Testing; Colorectal Neoplasms; DNA; Sequence Analysis, DNA; Humans; Gene Frequency; Germ-Line Mutation