Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

ABSTRACT:

Purpose

Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair genes, but many cases present familial aggregation but an unknown inherited cause. The hypothesis of rare high-penetrance mutations in new genes is a likely explanation for the underlying predisposition in some of these familial cases.

Methods

Exome sequencing was performed in 43 patients with colorectal cancer from 29 families with strong disease aggregation without mutations in known hereditary colorectal cancer genes. Data analysis selected only very rare variants (0-0.1%), producing a putative loss of function and located in genes with a role compatible with cancer. Variants in genes previously involve

SUBMITTER: Esteban-Jurado C 

PROVIDER: S-EPMC4318970 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature