Division of Hematology-Oncology, University of Massachusetts Chan School of Medicine - Baystate, Springfield, USA.
Division of Oncology, University of North Carolina at Chapel Hill, 170 Manning Dr, Chapel Hill, NC, 27514, USA.
Curr Oncol Rep. 2022 Dec;24(12):1791-1800. doi: 10.1007/s11912-022-01340-x. Epub 2022 Oct 18.
In this article, we discuss recent advances in germline genetic testing for patients with breast cancer and highlight current limitations and impacts on clinical care. We also provide an update on the therapeutic implications of having a germline mutation, including targeted systemic therapy options for treating early and metastatic breast cancer.
Approximately 5 to 10% of women diagnosed with breast cancer have a pathogenic variant in a hereditary cancer susceptibility gene, which has significant implications for managing these patients. Previously, testing was done mainly to inform screening and risk-reduction treatment; however, more recently, germline genetic results have significant systemic therapy implications that can meaningfully improve outcomes in breast cancer patients, especially with oral poly-ADP-ribose polymerase (PARP) inhibitors. These systemic therapy advances implore a shift in paradigm for whom to test moving forward and how to modify the existing testing models to meet the increasing demand for germline testing, which is expected to grow exponentially.
本文讨论了乳腺癌患者种系遗传检测的最新进展，重点介绍了当前的局限性和对临床护理的影响。我们还提供了关于携带种系突变的治疗意义的最新信息，包括治疗早期和转移性乳腺癌的靶向系统治疗选择。
大约 5%至 10%的乳腺癌女性患者携带有遗传性癌症易感基因的致病性变异，这对这些患者的管理具有重要意义。以前，检测主要是为了告知筛查和降低风险的治疗；然而，最近，种系遗传结果具有重要的系统治疗意义，可以显著改善乳腺癌患者的预后，特别是使用口服多聚 ADP-核糖聚合酶（PARP）抑制剂。这些系统治疗进展促使人们改变了未来进行检测的对象，并改变了现有的检测模式，以满足对种系检测不断增长的需求，预计这种需求将呈指数级增长。
