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Article

Inherited DNA-Repair Defects in Colorectal Cancer.

American journal of human genetics - 1 Mar 2018

AlDubayan Saud H, Giannakis Marios, Moore Nathanael D, Han G Celine, Reardon Brendan, Hamada Tsuyoshi, Mu Xinmeng Jasmine, Nishihara Reiko, Qian Zhirong, Liu Li, Yurgelun Matthew B, Syngal Sapna, Garraway Levi A, Ogino Shuji, Fuchs Charles S, Van Allen Eliezer M

Abstract excerpt

Colorectal cancer (CRC) heritability has been estimated to be around 30%. However, mutations in the known CRC-susceptibility genes explain CRC risk in fewer than 10% of affected individuals. Germline mutations in DNA-repair genes (DRGs) have recently been reported in CRC, but their contribution to CRC risk is largely unknown. We evaluated the gene-level germline mutation enrichment of 40 DRGs in 680 unselected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29478780
DOI: 10.1016/j.ajhg.2018.01.018
PMCID: PMC5985280

Genes

ATM
PALB2

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