Beth Israel Deaconess Medical Center, Boston, Massachusetts, US.
Harvard Medical School, Boston, Massachusetts, USA.
Breast J. 2020 Aug;26(8):1506-1512. doi: 10.1111/tbj.13972. Epub 2020 Jul 6.
Germline BRCA1/2 mutations may be infrequent in unselected breast cancer population but are concentrated in those with triple-negative breast cancer or high-risk family history. Insight into the biology of BRCA mutation is now allowing a targeted therapeutic approach to these carriers with breast cancer. Functional BRCA genes play a critical role in DNA damage repair. Agents such as platinum salts and poly (ADP-ribose) polymerase (PARP) inhibitors exploit this vulnerability of impaired DNA damage repair mechanism in BRCA mutant cancers to leverage therapeutic benefit. Research has demonstrated improved response rates to platinum salts in BRCA-mutated compared with non-BRCA-mutated breast cancer, particularly in the metastatic setting. Additionally, clinical trials of single-agent PARP inhibitors have shown encouraging response rates and progression-free survival in patients with BRCA1/2-mutated breast cancer. In this review, we summarize the medical management of BRCA-associated breast cancer.
胚系 BRCA1/2 突变在未经选择的乳腺癌人群中可能不常见，但集中在三阴性乳腺癌或高危家族史患者中。对 BRCA 突变生物学的深入了解现在允许对携带乳腺癌的这些患者进行靶向治疗。功能性 BRCA 基因在 DNA 损伤修复中发挥着关键作用。铂盐和聚（ADP-核糖）聚合酶（PARP）抑制剂等药物利用 BRCA 突变癌症中受损的 DNA 损伤修复机制的这种脆弱性来获得治疗益处。研究表明，与非 BRCA 突变乳腺癌相比，BRCA 突变乳腺癌对铂盐的反应率更高，尤其是在转移性环境中。此外，单药 PARP 抑制剂的临床试验显示，BRCA1/2 突变乳腺癌患者的反应率和无进展生存期令人鼓舞。在这篇综述中，我们总结了与 BRCA 相关的乳腺癌的医学管理。
