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Article

Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data.

Journal of medical genetics - 23 Oct 2024

Mukhtar Toqir K, Wilcox Naomi, Dennis Joe, Yang Xin, Naven Marc, Mavaddat Nasim, Perry John R B, Gardner Eugene, Easton Douglas F

Abstract excerpt

BACKGROUND: Deleterious germline variants in ATM and CHEK2 have been associated with a moderately increased risk of breast cancer. Risks for other cancers remain unclear. METHODS: Cancer associations for coding variants in ATM and CHEK2 were evaluated using whole-exome sequence data from UK Biobank linked to cancer registration data (348 488 participants), and analysed both as a retrospective case-control and a...

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Identifiers

PMID: 39209703
DOI: 10.1136/jmg-2024-110127
PMCID: PMC11503094

Genes

ATM
CHEK2

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