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Breast and colorectal cancer risks among over 6,000 CHEK2 pathogenic variant carriers: A comparison of missense versus truncating variants.

Cancer genetics - 1 Nov 2023

Mundt Erin, Mabey Brent, Rainville Irene, Ricker Charite, Singh Nanda, Gardiner Anna, Manley Susan, Slavin Thomas

Abstract excerpt

BACKGROUND AND AIMS: Heterozygous truncating pathogenic variants (PVs) in CHEK2 confer a 1.5 to 3-fold increased risk for breast cancer and may elevate colorectal cancer risks. Less is known regarding missense variants. Here we compared the cancer associations with truncating and missense PVs in CHEK2 across breast and colorectal cancer. METHODS: This was a retrospective analysis of 705,797 patients who received...

Topics

Humans
Female
Retrospective Studies
Genetic Predisposition to Disease
Breast Neoplasms
Mutation, Missense
Colorectal Neoplasms
Checkpoint Kinase 2

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37839337
DOI: 10.1016/j.cancergen.2023.10.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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