The <i>CHEK2</i> Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor.

ABSTRACT: The identification of recurrent founder variants in cancer predisposing genes may have important implications for implementing cost-effective targeted genetic screening strategies. In this study, we evaluated the prevalence and relative risk of the CHEK2 recurrent variant c.349A>G in a series of 462 Portuguese patients with early-onset and/or familial/hereditary prostate cancer (PrCa), as well as in the large multicentre PRACTICAL case-control study comprising 55,162 prostate cancer cases and 36,147 controls. Additionally, we investigated the potential shared ancestry of the carriers by performing identity-by-descent, haplotype and age estimation analyses using high-density SNP data from 70 variant carriers belonging to 11 different populations included in the PRACTICAL consortium.

SUBMITTER: Brandao A 

PROVIDER: S-EPMC7694218 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature