Concurrent germline BRCA1, BRCA2, and CHEK2 pathogenic variants in hereditary breast cancer: a case series.
Jasmine SukumarMahmoud KassemDoreen AgneseRobert PilarskiBhuvaneswari RamaswamyKevin SweetSagar D SardesaiPublished in: Breast cancer research and treatment (2021)
The cancer risk and phenotypic manifestations associated with transheterozygous or multiple concurrent deleterious germline variants in hereditary breast cancer requires further investigation. A personalized approach to counseling, screening, and risk reduction should be undertaken for these individuals.