Journal Article

Mismatch Repair Genes <i>hMLH1</i> and <i>hMSH2</i> and Colorectal Cancer: A HuGE Review

R. J. Mitchell, S. M. Farrington, M. G. Dunlop and H. Campbell

in American Journal of Epidemiology

Published on behalf of Johns Hopkins Bloomberg School of Public Health

Volume 156, issue 10, pages 885-902
Published in print November 2002 | ISSN: 0002-9262
Published online November 2002 | e-ISSN: 1476-6256 | DOI:
Mismatch Repair Genes hMLH1 and hMSH2 and Colorectal Cancer: A HuGE Review

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Evidence to support a role for the mismatch repair genes human mutL homolog 1 (hMLH1) and human mutS homolog 2 (hMSH2) in the etiology of colorectal cancer has come from linkage analysis, segregation studies, and molecular biologic analysis. More recently, carriers of potentially pathogenic mutations in the hMLH1/hMSH2 genes have consistently been shown to be at a greatly increased risk of developing colorectal cancer compared with the general population. When considered together, the available evidence shows a strong, consistent, and biologically plausible association between mismatch repair gene mutations and colorectal cancer. The penetrance of mutations in hMLH1/hMSH2 is incomplete and is significantly higher in males (approximately 80%) than in females (approximately 40%). To date, evidence for gene-gene or gene-environment interactions is limited, although preliminary studies have revealed a number of avenues that merit exploration. Population screening for mutation carriers is not currently a feasible option, and mutation analysis remains restricted to either relatives of mutation carriers or colorectal cancer cases selected on the basis of phenotype.

Keywords: colorectal neoplasms; epidemiology; genetic screening; germ-line mutation; hMLH1; hMSH2; penetrance; survival; Abbreviations: hMLH1, human mutL homolog 1; hMSH2, human mutS homolog 2; HNPCC, hereditary nonpolyposis colorectal cancer; MSI, microsatellite instability.

Journal Article.  11245 words.  Illustrated.

Subjects: Public Health and Epidemiology

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