@article{5ed2e967ff51441080f2f6d432f5eb01,
title = "Population carrier frequency of hMSH2 and hMLH1 mutations",
abstract = "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% Cl = 1:1247-1:7626) and these carriers are at high risk of colorectal and other cancers. (C) 2000 Cancer Research Campaign.",
keywords = "Colorectal cancer, DNA mismatch repair, Susceptibility, hMLH1, hMSH2",
author = "Dunlop, {M. G.} and Farrington, {S. M.} and I. Nicholl and L. Aaltonen and G. Petersen and M. Porteous and A. Carothers",
note = "Funding Information: The work was supported by the following grants in Scotland, Cancer Research Campaign (SP2326/0101, SP2326/0201), Scottish Health Department (K/MRS/50/C2417), Scottish Hospitals Endowment Research Trust (SHERT 1331) and Tenovus Scotland. MGD was funded by a Medical Research Council Clinician Scientist Fellowship and SMF by a Royal Society of Edinburgh Personal Research Fellowship. In Finland, grant funding was by European Commission contract BMH4-CT96-0772 and, in the USA by National Institute of Health grant R01 CA63721. We acknowledge the substantial contributions to this work by Bert Vogelstein, Albert de la Chapelle and their respective laboratories. They contributed to the work both directly as well as by collaboration and provided support and advice. We are indebted to Alison Fordyce of the Medical Research Council Registry for tireless work in pedigree-tracing in Scottish Central Records and to Karen Campbell, Nicola Bradshaw and Pauline Pearson for counselling and sample collection. We also acknowledge the key role of the Information and Statistics Division of the Scottish Health Service in providing population-based data in Scotland and in particular we acknowledge Helen Brown and Roger Black.",
year = "2000",
doi = "10.1054/bjoc.2000.1520",
language = "English (US)",
volume = "83",
pages = "1643--1645",
journal = "British journal of cancer",
issn = "0007-0920",
publisher = "Nature Publishing Group",
number = "12",
}