Population carrier frequency of hMSH2 and hMLH1 mutations

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 carr...

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Autores principales: Dunlop, M G, Farrington, S M, Nicholl, I, Aaltonen, L, Petersen, G, Porteous, M, Carothers, A
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2000
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363440/
https://www.ncbi.nlm.nih.gov/pubmed/11104559
http://dx.doi.org/10.1054/bjoc.2000.1520
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author Dunlop, M G
Farrington, S M
Nicholl, I
Aaltonen, L
Petersen, G
Porteous, M
Carothers, A
author_facet Dunlop, M G
Farrington, S M
Nicholl, I
Aaltonen, L
Petersen, G
Porteous, M
Carothers, A
author_sort Dunlop, M G
collection PubMed
description 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. © 2000 Cancer Research Campaign http://www.bjcancer.com
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spelling pubmed-23634402009-09-10 Population carrier frequency of hMSH2 and hMLH1 mutations Dunlop, M G Farrington, S M Nicholl, I Aaltonen, L Petersen, G Porteous, M Carothers, A Br J Cancer Short Communication 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. © 2000 Cancer Research Campaign http://www.bjcancer.com Nature Publishing Group 2000-12 /pmc/articles/PMC2363440/ /pubmed/11104559 http://dx.doi.org/10.1054/bjoc.2000.1520 Text en Copyright © 2000 Cancer Research Campaign https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material.If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/.
spellingShingle Short Communication
Dunlop, M G
Farrington, S M
Nicholl, I
Aaltonen, L
Petersen, G
Porteous, M
Carothers, A
Population carrier frequency of hMSH2 and hMLH1 mutations
title Population carrier frequency of hMSH2 and hMLH1 mutations
title_full Population carrier frequency of hMSH2 and hMLH1 mutations
title_fullStr Population carrier frequency of hMSH2 and hMLH1 mutations
title_full_unstemmed Population carrier frequency of hMSH2 and hMLH1 mutations
title_short Population carrier frequency of hMSH2 and hMLH1 mutations
title_sort population carrier frequency of hmsh2 and hmlh1 mutations
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363440/
https://www.ncbi.nlm.nih.gov/pubmed/11104559
http://dx.doi.org/10.1054/bjoc.2000.1520
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