Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer.

ABSTRACT: Background: Although high-risk mutations in identified major susceptibility genes (DNA mismatch repair genes and MUTYH) account for some familial aggregation of colorectal cancer, their population prevalence and the causes of the remaining familial aggregation are not known.Methods: We studied the families of 5,744 colorectal cancer cases (probands) recruited from population cancer registries in the United States, Canada, and Australia and screened probands for mutations in mismatch repair genes and MUTYH We conducted modified segregation analyses using the cancer history of first-degree relatives, conditional on the proband's age at diagnosis. We estimated the prevalence of mutations in the identified genes, the prevalence of HR for unidentified major gene muta

SUBMITTER: Win AK 

PROVIDER: S-EPMC5336409 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature