ENIGMA CHEK2gether project: a comprehensive study identifies functionally impaired CHEK2 germline missense variants associated with increased breast cancer risk
Purpose: Germline pathogenic variants in CHEK2 confer moderately elevated breast cancer risk (odds ratio, OR ~ 2.5), qualifying carriers for enhanced breast cancer screening. Besides pathogenic variants, dozens of missense CHEK2 variants of uncertain significance (VUS) have been identified, hamperin...
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