Department of Medicine and of Epidemiology and Population Health, Stanford University, Stanford, CA, USA.
Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA, USA.
JNCI Cancer Spectr. 2020 Sep 18;5(1). doi: 10.1093/jncics/pkaa083. eCollection 2021 Feb.
Breast cancer patients increasingly undergo genetic testing. To examine chemotherapy indications for germline pathogenic variant (PV) carriers, we linked results of germline testing to Georgia and California Surveillance, Epidemiology, and End Results registry records, including 21-gene recurrence score (RS) results, for breast cancer patients diagnosed in 2013-2017. All statistical tests were 2-sided. Patients (N=37 349) had RS results of whom 714 had , , , , , or Lynch syndrome (, , , ) PVs. For women aged 50 years or older at breast cancer diagnosis, RS often exceeded the chemotherapy benefit threshold (≥26) with (71.7% vs 14.4% with none; <.001), (37.1%; = .001), and (44.3%; < .001) PVs. Results were similar for women diagnosed at younger than 50 years of age. PVs in , but not , , , , or Lynch syndrome genes, were associated with elevated RS on multivariable analysis ( < .001). Results may inform RS testing decisions in breast cancer patients with PVs.
越来越多的乳腺癌患者接受基因检测。为了研究胚系致病性变异（PV）携带者的化疗指征，我们将胚系检测结果与佐治亚州和加利福尼亚州监测、流行病学和结果注册处的记录（包括 21 基因复发评分（RS）结果）进行了关联，这些记录包含了 2013-2017 年间确诊的乳腺癌患者。所有统计检验均为双侧检验。患者（N=37349）有 RS 结果，其中 714 人有 、 、 、 、 或林奇综合征（ 、 、 ）PVs。对于乳腺癌诊断时年龄在 50 岁或以上的女性，RS 通常超过化疗获益阈值（≥26），具有 （71.7%比无 ； ＜.001）、 （37.1%； =.001）和 （44.3%； ＜.001）PVs。对于诊断年龄小于 50 岁的女性，结果相似。多变量分析显示， （但不是 、 、 、 或林奇综合征基因）中的 PVs 与 RS 升高相关（ ＜.001）。这些结果可能为携带 PV 的乳腺癌患者的 RS 检测决策提供信息。
