Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.

ABSTRACT:

Background

Germ-line mutations in the exonuclease domains of the POLE and POLD1 genes are associated with an increased, but yet unquantified, risk of colorectal cancer (CRC).

Methods

We identified families with POLE or POLD1 variants by searching PubMed for relevant studies prior to October 2016 and by genotyping 669 population-based CRC cases diagnosed in patients under 60 years of age, from the Australasian Colorectal Cancer Family Registry. We estimated the age-specific cumulative risks (penetrance) using a modified segregation analysis.

Results

We observed 67 CRCs (mean age at diagnosis = 50.2 (SD = 13.8) years) among 364 first- and second-degree relatives from 41 POLE families, and 6 CRCs (mean age at diagnosis = 39.7 (SD = 6.83) years) among 69 relatives from 9

SUBMITTER: Buchanan DD 

PROVIDER: S-EPMC5943186 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature