Pouptsis Athanasios, Swafe Leyla, Patwardhan Maneesha, Stavraka Chara
Department of Medical Oncology, Euromedica General Clinic of Thessaloniki, Thessaloniki, Greece.
Department of Surgery, Queen Elizabeth Hospital, Lewisham and Greenwich NHS Trust, London, United Kingdom.
Front Oncol. 2020 Oct 20;10:553080. doi: 10.3389/fonc.2020.553080. eCollection 2020.
Hereditary breast cancer accounts for 5%-10% of breast cancer cases. The majority of familial cases have been linked to germline mutations in BRCA1 and BRCA2 genes, though other high penetrance susceptibility genes have also been identified through genomic testing advances. Optimal surgical treatment for these patients, who are of a younger age, has several challenges as it usually involves aggressive therapeutic and risk reducing interventions. At the same time, the therapeutic armamentarium for BRCA1/2 mutation carriers apart from platinum salts, has been enriched with the addition of poly-ADP ribose polymerase (PARP) inhibitors with promising outcomes. In this review we provide a succinct and comprehensive overview of the surgical and systemic treatment options for patients with BRCA1/2 mutation related breast cancer and an update on the most recent systemic treatment advances.
遗传性乳腺癌占乳腺癌病例的5%-10%。大多数家族性病例与BRCA1和BRCA2基因的种系突变有关,不过通过基因组检测技术的进步,也发现了其他高 penetrance 易感性基因。这些年龄较轻的患者的最佳手术治疗存在诸多挑战,因为通常需要采取积极的治疗和降低风险的干预措施。与此同时,除铂盐外,BRCA1/2突变携带者的治疗手段因添加了聚ADP核糖聚合酶(PARP)抑制剂而更加丰富,且疗效 promising。在本综述中,我们简要而全面地概述了BRCA1/2突变相关乳腺癌患者的手术和全身治疗选择,并介绍了最新的全身治疗进展。