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The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data.

American journal of human genetics - 3 Apr 2025

Wilcox Naomi, Tyrer Jonathan P, Dennis Joe, Yang Xin, Perry John R B, Gardner Eugene J, Easton Douglas F

Abstract excerpt

Genome-wide association studies have been highly successful at identifying common variants associated with cancer; however, they do not explain all the inherited risks of cancer. Family-based studies, targeted sequencing, and, more recently, exome-wide association studies have identified rare coding variants in some genes associated with cancer risk, but the overall contribution of these variants to the...

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PMID: 40073867
DOI: 10.1016/j.ajhg.2025.02.013
PMCID: PMC12081281

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