Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk.

Underutilization of BRCA1/2 testing to guide breast cancer treatment: black and Hispanic women particularly at risk.
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DOI:
10.1097/gim.0b013e3182091ba4
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发表时间:
2011-04
期刊:
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子:
--
通讯作者:
Shields AE
Shields AE
中科院分区:
其他
文献类型:
--
作者:
Levy DE;Byfield SD;Comstock CB;Garber JE;Syngal S;Crown WH;Shields AE

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患有早发性(40岁≤)乳腺癌的妇女携带BRCA1/2基因有害突变的风险很高;因此建议进行基因评估。了解BRCA1/2突变状态有助于指导治疗决策。到目前为止,还没有关于在新诊断的妇女中进行BRCA1/2测试的全国性研究。我们使用了2004年至2007年全国1440万商业保险患者样本的管理数据,以确定20-40岁女性(n=1,474)中新诊断的早发性乳腺癌病例。COX模型评估了BRCA1/2测试,调整了协变量和不同的随访时间。总体而言,≤40岁的女性中有30%接受了BRCA1/2测试。在调整后的分析中,犹太裔女性接受测试的可能性显著高于非犹太白人女性(HR=2.83,95%CI 1.52-5.28),而黑人女性(HR=0.34,95%0.18-0.64)和西班牙裔女性(HR=0.52,95%CI 0.33-0.81)接受测试的可能性显著低于非犹太白人女性。与那些POS保险计划相比,那些参加HMO(HR=0.73,95%CI 0.54-0.99)的人接受BRCA1/2测试的可能性显著降低。与2004年相比,2007年确诊的女性的检测率大幅上升。在这个新诊断的乳腺癌患者样本中,BRCA1/2突变的风险很高,基因评估很低,测试中存在明显的种族差异。
Women with early-onset (age ≤40) breast cancer are at high risk of carrying deleterious mutations in the BRCA1/2 genes; genetic assessment is thus recommended. Knowledge of BRCA1/2 mutation status is useful in guiding treatment decisions. To date, there has been no national study of BRCA1/2 testing among newly diagnosed women. We used administrative data (2004–2007) from a national sample of 14.4 million commercially-insured patients to identify newly-diagnosed, early-onset breast cancer cases among women ages 20–40 (n=1,474). Cox models assessed BRCA1/2 testing, adjusting for covariates and differential lengths of follow-up. Overall, 30% of women age ≤40 received BRCA1/2 testing. In adjusted analyses, women of Jewish ethnicity were significantly more likely to be tested (HR=2.83, 95% CI 1.52–5.28), while black women (HR=0.34, 95% 0.18–0.64) and Hispanic women (HR=0.52, 95% CI 0.33–0.81) were significantly less likely to be tested than non-Jewish white women. Those enrolled in an HMO (HR=0.73, 95% CI 0.54–0.99) were significantly less likely to receive BRCA1/2 testing than those POS insurance plans. Testing rates rose sharply for women diagnosed in 2007 compared to 2004. In this national sample of newly diagnosed breast cancer patients at high risk for BRCA1/2 mutations, genetic assessment was low, with marked racial differences in testing.