Article
Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer.
Human mutation - 1 Jul 2013
Smith Christopher G, Naven Marc, Harris Rebecca, Colley James, West Hannah, Li Ning, Liu Yuan, Adams Richard, Maughan Timothy S, Nichols Laura, Kaplan Richard, Wagner Michael J, McLeod Howard L, Cheadle Jeremy P
Abstract excerpt
Inherited factors account for around one third of all colorectal cancers (CRCs) and include rare high penetrance mutations in APC, MSH2, MSH6, and POLE. Here, we sought novel tumor-suppressor genes that predispose to CRC by exome resequencing 50 sporadic patients with advanced CRC (18 diagnosed ≤35 years of age) at a mean coverage of 30×. To help identify potentially pathogenic alleles, we initially sought rare...
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