Article
CHEK2 variants: linking functional impact to cancer risk.
Trends in cancer - 1 Sept 2022
Boonen Rick A C M, Vreeswijk Maaike P G, van Attikum Haico
Abstract excerpt
Protein-truncating variants in the breast cancer susceptibility gene CHEK2 are associated with a moderately increased risk of breast cancer. By contrast, for missense variants of uncertain significance (VUS) in CHEK2 the associated breast cancer risk is often unclear. To facilitate their classification, functional assays that determine the impact of missense VUS on CHK2 protein function have been performed. Here...
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