Preoperative BRCA1/2 genetic testing in the adolescent and young adult generation: current status and issues

Abstract

　Genetic tests for the breast cancer 1 and 2 (BRCA1/2) genes (BRACAnalysis^®) are now covered by insurance for adolescents and young adults; AYA, but the AYA has not been investigated in detail. We compared rates of BRACAnalysis^® tests and positivity, as well as the outcomes of 748 breast cancer surgeries conducted between April 2020 and December 2022 between women aged ≤ 39 (n = 37; younger) and ≥ 40 y (n = 711; older). The test rates were 22 (59.5%) of 37 and 203 (28.6%) of 711 younger and older women, respectively (P < 0.001). The preoperative germline (g)BRCA1/2 pathological mutation-positive, a variant of uncertain significance (VUS), and negative, were in 11.1%, 22.2%, 66.7%, and 4.7%, 3.4%, and 91.9% in the younger and older groups, respectively (P = 0.01). The most prevalent procedures in the younger group were total mastectomy and breast re-construction (P = 0.003).