Department of Surgery, Duke University, Durham, NC, USA.
Ann Surg Oncol. 2013 Oct;20(10):3254-8. doi: 10.1245/s10434-013-3205-1. Epub 2013 Aug 22.
Revised NCCN guidelines recommend that women ≤60 years with triple-negative breast cancer (TNBC) be referred for consideration of genetic counseling. Small, homogeneous samples have limited evaluation of BRCA mutation prevalence among different ethnicities affected by TNBC subtype. We sought to determine whether the prevalence of BRCA mutations within a TNBC cohort differs by demographic factors.
We performed a retrospective review of patients with TNBC referred for genetic counseling at two academic Hereditary Cancer Clinics between 2000 and 2012. Demographic data were collected, including age at diagnosis and race/ethnicity. Race was categorized as African American (AA), Ashkenazi Jewish (AJ), Asian, Caucasian, Hispanic, or other. Primary outcome was BRCA mutation status, analyzed by race/ethnicity and age at diagnosis.
A total of 469 patients with TNBC who underwent testing for BRCA genetic mutations were identified, of which 450 patients had evaluable BRCA testing results; 139 (30.8 %) had confirmed BRCA1 (n = 106) or BRCA2 (n = 32) mutations. BRCA mutation prevalence differed by ethnicity and race: AA (20.4 %), AJ (50 %), Asian (28.5 %), Caucasian (33.3 %), and Hispanic (20 %). The prevalence of genetic mutations also differed by age at diagnosis: <40 years (43.8 %), 40-49 years (27.4 %), 50-59 years (25.3 %), 60-69 years (12.5 %), and >70 years (16.6 %).
The prevalence of genetic mutations among women with TNBC referred for genetic counseling is high and differs significantly by ethnicity/race and age. This data helps to refine mutation risk estimates among women with TNBC, allowing for more personalized genetic counseling potentially aiding in improved patient decision-making.
修订后的 NCCN 指南建议，60 岁以下的三阴性乳腺癌（TNBC）患者应考虑接受遗传咨询。小而同质的样本对不同族裔 TNBC 亚型患者的 BRCA 突变流行率的评估有限。我们旨在确定 TNBC 患者队列中 BRCA 突变的流行率是否因人口统计学因素而异。
我们对 2000 年至 2012 年间在两家学术遗传性癌症诊所因 TNBC 接受遗传咨询的患者进行了回顾性研究。收集了人口统计学数据，包括诊断时的年龄和种族/族裔。种族分为非裔美国人（AA）、阿什肯纳兹犹太人（AJ）、亚洲人、白种人、西班牙裔或其他。主要结局是通过种族/族裔和诊断时的年龄分析 BRCA 突变状态。
共确定了 469 例接受 BRCA 基因突变检测的 TNBC 患者，其中 450 例患者有可评估的 BRCA 检测结果；139 例（30.8%）证实存在 BRCA1（n=106）或 BRCA2（n=32）突变。BRCA 突变的流行率因种族/族裔而异：AA（20.4%）、AJ（50%）、亚洲人（28.5%）、白种人（33.3%）和西班牙裔（20%）。基因突变的流行率也因诊断时的年龄而异：<40 岁（43.8%）、40-49 岁（27.4%）、50-59 岁（25.3%）、60-69 岁（12.5%）和>70 岁（16.6%）。
接受遗传咨询的 TNBC 患者的基因突变发生率很高，且与种族/族裔和年龄差异显著。这些数据有助于细化 TNBC 患者的突变风险估计，从而实现更个性化的遗传咨询，可能有助于改善患者的决策。
