Prevalence of BRCA Mutations Among Women with Triple-Negative Breast Cancer (TNBC) in a Genetic Counseling Cohort
Prevalence of BRCA Mutations Among Women with Triple-Negative Breast Cancer (TNBC) in a Genetic Counseling Cohort
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DOI：
10.1245/s10434-013-3205-1
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发表时间：
2013-10-01
影响因子：
3.7
通讯作者：
Hwang, E. Shelley
中科院分区：
文献类型：
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作者：
Greenup, Rachel;Buchanan, Adam;Hwang, E. Shelley
修订后的NCCN指南建议，60岁以上患有三阴性乳腺癌（TNBC）的女性应考虑接受遗传咨询。小样本、同质样本对受TNBC亚型影响的不同种族中BRCA突变患病率的评估有限。我们试图确定BRCA突变的患病率是否在TNBC队列中因人口统计学因素而异。我们对2000年至2012年期间在两家学术遗传性癌症诊所接受遗传咨询的TNBC患者进行了回顾性分析。收集人口统计学数据，包括诊断时的年龄和人种/种族。人种分为非裔美国人（AA）、德系犹太人（AJ）、亚裔、高加索人、西班牙裔或其他。主要结局是BRCA突变状态，按人种/种族和诊断时的年龄进行分析。共确定了469例接受BRCA基因突变检测的TNBC患者，其中450例患者具有可评价的BRCA检测结果; 139例（30.8%）证实了BRCA 1（n = 106）或BRCA 2（n = 32）突变。BRCA突变患病率因种族和人种而异：AA（20.4%）、AJ（50%）、亚裔（28.5%）、高加索人（33.3%）和西班牙裔（20%）。基因突变的患病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%），> 70岁转介接受遗传咨询的TNBC妇女中基因突变的患病率很高，并且因种族/种族和年龄而存在显著差异。这些数据有助于改善TNBC女性的突变风险估计，允许更个性化的遗传咨询，可能有助于改善患者的决策。
Revised NCCN guidelines recommend that women a parts per thousand currency sign60 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.