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.
authors: Colon Cancer Genetics Group, Division of Molecular and Clinical Medicine, MRC Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK.
authors: M G
authors: MG
authors: Dunlop
authors: S M
authors: SM
authors: Farrington
authors: I
authors: I
authors: Nicholl
authors: L
authors: L
authors: Aaltonen
authors: G
authors: G
authors: Petersen
authors: M
authors: M
authors: Porteous
authors: A
authors: A
authors: Carothers
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins; D015331:Cohort Studies; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins; D015995:Prevalence; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012606:Scotland / Q000453:epidemiology
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C501486:MLH1 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein