Department of Surgery, School of Medicine, Indiana University, Indianapolis, IN 46202, USA.
Curr Oncol. 2023 May 1;30(5):4677-4687. doi: 10.3390/curroncol30050353.
For patients with newly diagnosed breast cancer, information regarding hereditary predisposition can influence treatment decisions. From a surgical standpoint, patients with known germline mutations may alter decisions of local therapy to reduce the risk of second breast primaries. This information may also be considered in the choice of adjuvant therapies or eligibility for clinical trials. In recent years, the criteria for the consideration of germline testing in patients with breast cancer has expanded. Additionally, studies have shown a similar prevalence of pathogenic mutations in those patients outside of these traditional criteria, prompting calls for genetic testing for all patients with a history of breast cancer. While data confirms the benefit of counseling by certified genetics professionals, the capacity of genetic counselors may no longer meet the needs of these growing numbers of patients. National societies assert that counseling and testing can be performed by providers with training and experience in genetics. Breast surgeons are well positioned to offer this service, as they receive formal genetics training during their fellowship, manage these patients daily in their practices, and are often the first providers to see patients after their cancer diagnosis.
对于新诊断为乳腺癌的患者，有关遗传易感性的信息可能会影响治疗决策。从手术角度来看，已知存在种系突变的患者可能会改变局部治疗决策，以降低第二原发性乳腺癌的风险。在选择辅助治疗或参加临床试验时，也可能会考虑这些信息。近年来，考虑对乳腺癌患者进行种系检测的标准已经扩大。此外，研究表明，在这些传统标准之外的患者中，致病性突变的患病率相似，这促使呼吁对所有有乳腺癌病史的患者进行基因检测。虽然数据证实了由认证遗传学专业人员提供咨询的益处，但遗传咨询师的能力可能不再满足这些不断增加的患者的需求。国家学会主张，具有遗传学培训和经验的提供者可以进行咨询和检测。乳腺外科医生非常适合提供这项服务，因为他们在住院医师培训期间接受了正式的遗传学培训，在日常实践中管理这些患者，并且通常是癌症诊断后首先看到患者的医生。
