Ontology highlight
ABSTRACT:
SUBMITTER: Buchanan DD
PROVIDER: S-EPMC5943186 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Buchanan Daniel D DD Stewart Jenna R JR Clendenning Mark M Rosty Christophe C Mahmood Khalid K Pope Bernard J BJ Jenkins Mark A MA Hopper John L JL Southey Melissa C MC Macrae Finlay A FA Winship Ingrid M IM Win Aung Ko AK
Genetics in medicine : official journal of the American College of Medical Genetics 20171109 8
<h4>Background</h4>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).<h4>Methods</h4>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 cumulat ...[more]