Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

ABSTRACT: Although family history is a major risk factor for colorectal cancer (CRC) a genetic diagnosis cannot be obtained in over 50 % of familial cases when screened for known CRC cancer susceptibility genes. The genetics of undefined-familial CRC is complex and recent studies have implied additional clinically actionable mutations for CRC in susceptibility genes for other cancers. To clarify the contribution of non-CRC susceptibility genes to undefined-familial CRC we conducted a mutational screen of 114 cancer susceptibility genes in 847 patients with early-onset undefined-familial CRC and 1609 controls by analysing high-coverage exome sequencing data. We implemented American College of Medical Genetics and Genomics standards and guidelines for assigning pathogenicity to variants. Globally acro

SUBMITTER: Dobbins SE 

PROVIDER: S-EPMC5010824 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature