BRCA1 和 BRCA2 是肿瘤抑制基因，与乳腺癌的遗传易感性有关。种系 BRCA1/2 致病性或可能致病性变异 (gBRCAm) 在临床上与乳腺癌的治疗选择相关，因为它们赋予对聚 (ADP-核糖) 聚合酶 (PARP) 抑制剂的敏感性。 BRCA1/2 突变状态也可能影响其他全身治疗、降低风险措施和手术选择的决策。因此，对 gBRCAm 检测的需求有所增加。基因检测存在一些障碍，包括获得检测设施、训练有素的咨询师和社会心理支持的机会有限，以及检测的经济负担。在这里，我们描述了 gBRCAm 检测当前对乳腺癌患者的影响，总结了当前的 gBRCAm 检测方法，提供了支持更广泛采用主流检测实践的潜在解决方案，并考虑了未来的检测方向。© 2024。作者。

BRCA1 and BRCA2 are tumor suppressor genes that have been linked to inherited susceptibility of breast cancer. Germline BRCA1/2 pathogenic or likely pathogenic variants (gBRCAm) are clinically relevant for treatment selection in breast cancer because they confer sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. BRCA1/2 mutation status may also impact decisions on other systemic therapies, risk-reducing measures, and choice of surgery. Consequently, demand for gBRCAm testing has increased. Several barriers to genetic testing exist, including limited access to testing facilities, trained counselors, and psychosocial support, as well as the financial burden of testing. Here, we describe current implications of gBRCAm testing for patients with breast cancer, summarize current approaches to gBRCAm testing, provide potential solutions to support wider adoption of mainstreaming testing practices, and consider future directions of testing.© 2024. The Author(s).