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Full-Text Articles in Medicine and Health Sciences
Breast Cancer Screening Implications Of Risk Modeling Among Female Relatives Of Atm And Chek2 Carriers, Anne E. Weidner, Mariel E. Liggin, Brenda I. Zuniga, Ann L. Tezak, Georgia L. Wiesner, Tuya Pal
Breast Cancer Screening Implications Of Risk Modeling Among Female Relatives Of Atm And Chek2 Carriers, Anne E. Weidner, Mariel E. Liggin, Brenda I. Zuniga, Ann L. Tezak, Georgia L. Wiesner, Tuya Pal
Biology Student Research
Background
With the increasing use of multigene panel tests, pathogenic and likely pathogenic (P/LP) variants are identified more frequently in the moderate-penetrance breast cancer genes ATM and CHEK2. Lifetime breast cancer risk among women with P/LP variants in these genes generally exceeds 20%, meeting the threshold at which high-risk breast cancer screening through breast magnetic resonance imaging (MRI) is recommended.
Methods
Among a registry-based sample of 56 ATM and 69 CHEK2 carriers, the authors sought to determine the percentage of relatives in whom a P/LP variant would impact breast cancer surveillance. Lifetime breast cancer risks for unaffected, female first-degree …