Population carrier frequency of hMSH2 and hMLH1 mutations

被引：50

作者：

Dunlop, MG ^{[1
]}

Farrington, SM

Nicholl, I

Aaltonen, L

Petersen, G

Porteous, M

Carothers, A

机构：

[1] Univ Edinburgh, Western Gen Hosp, Div Mol & Clin Med, MRC Human Genet Unit,Colon Canc Genet Grp, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Univ Helsinki, Dept Med Genet, FIN-00014 Helsinki, Finland

[3] Johns Hopkins Univ, Dept Epidemiol, Baltimore, MD 21205 USA

[4] Johns Hopkins Univ, Dept Oncol, Baltimore, MD 21205 USA

[5] Western Gen Hosp, Dept Clin Genet, Edinburgh EH4 2XU, Midlothian, Scotland

来源：

BRITISH JOURNAL OF CANCER | 2000年 / 83卷 / 12期

关键词：

colorectal cancer; susceptibility; hMSH2; hMLH1; DNA mismatch repair;

D O I：

10.1054/bjoc.2000.1520

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Knowledge of population carrier frequency for DNA mismatch repair (MMR) gene mutations would contribute to understanding the burden of cancer due to genetic susceptibility, but robust prevalence estimates are lacking. To estimate carrier frequency, we genotyped a cohort of relatives of mutation carriers and determined their colorectal cancer prevalence. Systematic Finnish and US data were combined with Scottish genotype and cancer prevalence data in a Bayesian calculation. The estimated carrier prevalence in the population aged 15-74 years is 1:3139 (95% CI = 1:1247-1:7626) and these carriers are at high risk of colorectal and other cancers. (C) 2000 Cancer Research Campaign.

引用

页码：1643 / 1645

页数：3

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