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Article

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

PLoS genetics - 1 Aug 2024

McCarthy-Leo Claire E, Brush George S, Pique-Regi Roger, Luca Francesca, Tainsky Michael A, Finley Russell L

Abstract excerpt

Loss of function mutations in the checkpoint kinase gene CHEK2 are associated with increased risk of breast and other cancers. Most of the 3,188 unique amino acid changes that can result from non-synonymous single nucleotide variants (SNVs) of CHEK2, however, have not been tested for their impact on the function of the CHEK2-enocded protein (CHK2). One successful approach to testing the function of variants has...

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PMID: 39146382
DOI: 10.1371/journal.pgen.1011375
PMCID: PMC11349238

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