Dubsky Peter, Jackisch Christian, Im Seock-Ah, Hunt Kelly K, Li Chien-Feng, Unger Sheila, Paluch-Shimon Shani
Breast and Tumor Center, Hirslanden Klinik St. Anna, Lucerne, Switzerland.
University of Lucerne, Faculty of Health Sciences and Medicine, Lucerne, Switzerland.
NPJ Breast Cancer. 2024 Sep 5;10(1):77. doi: 10.1038/s41523-024-00686-8.
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.
BRCA1和BRCA2是肿瘤抑制基因，与遗传性乳腺癌易感性相关。种系BRCA1/2致病性或可能致病性变异（gBRCAm）在乳腺癌治疗选择中具有临床相关性，因为它们使患者对聚（ADP-核糖）聚合酶（PARP）抑制剂敏感。BRCA1/2突变状态也可能影响其他全身治疗、降低风险措施及手术选择的决策。因此，对gBRCAm检测的需求增加。基因检测存在若干障碍，包括检测设施、专业咨询人员及心理社会支持获取有限，以及检测的经济负担。在此，我们描述gBRCAm检测对乳腺癌患者的当前影响，总结gBRCAm检测的当前方法，提供支持更广泛采用主流检测实践的潜在解决方案，并思考检测的未来方向。
