Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.


Fleischmann, C; Peto, J; Cheadle, J; Shah, B; Sampson, J; Houlston, RS; (2004) Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. International journal of cancer Journal international du cancer, 109 (4). pp. 554-8. ISSN 0020-7136 DOI: https://doi.org/10.1002/ijc.20020

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Abstract

Mutations in the base excision repair gene MYH have recently been shown to confer recessive susceptibility to colorectal adenomas and carcinomas. To evaluate the contribution of germline MYH mutations to early-onset colorectal cancer, we screened a series of 358 unselected early-onset cases for germline changes in the coding sequence of the gene. Two cases harbored biallelic germline mutations (0.6%; 95% CI = 0.06-2.0) and 8 single MYH mutations (2.2%; 95% CI = 0.9-4.4). Both cases harboring biallelic MYH mutations had multiple polyps but not profuse polyposis. All cases had distally sited tumors. No biallelic mutations were detected among 354 controls. These results confirm that biallelic MYH mutations confer susceptibility to colorectal cancer but are unlikely to account for more than 3% of early-onset colorectal cancer.

Item Type: Article
Faculty and Department: Faculty of Epidemiology and Population Health > Dept of Non-Communicable Disease Epidemiology
PubMed ID: 14991577
Web of Science ID: 220257200010
URI: http://researchonline.lshtm.ac.uk/id/eprint/12942

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