Expanding the Criteria for BRCA Mutation Testing in Breast Cancer Survivors
Expanding the Criteria for BRCA Mutation Testing in Breast Cancer Survivors
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DOI：
10.1200/jco.2010.28.0719
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发表时间：
2010-09-20
影响因子：
45.3
通讯作者：
Arun, Banu
中科院分区：
文献类型：
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作者：
Kwon, Janice S.;Gutierrez-Barrera, Angelica M.;Arun, Banu
目的每年被诊断为乳腺癌的女性中，约有25%的人年龄在50岁以下，其中近10%的人携带BRCA突变。并不是所有的潜在携带者都被现有的BRCA检测标准所识别。我们评估了不同BRCA检测标准对50岁以下乳腺癌患者的成本和收益。方法我们开发了马尔可夫蒙特卡罗模拟来比较BRCA突变检测的六个标准：(1)未检测(参考)；(2)50岁以下患者的髓样乳腺癌；(3)40岁以下患者的乳腺癌；(4)40岁以下患者的三阴性(TN)乳腺癌；(5)50岁以下患者的TN乳腺癌；(6)50岁以下患者的乳腺癌。健康净收益是预期寿命和质量调整后的预期寿命，主要结果是增量成本效益比(ICER)。该模型估计了乳腺癌和卵巢癌新发病例的数量。结果对所有年龄在50岁以下的乳腺癌患者进行BRCA突变检测，可以防止乳腺癌和卵巢癌病例数量最高，但ICER不佳。对50岁以下乳腺癌患者进行BRCA基因突变检测具有成本效益，ICER为8,027美元/年(调整质量后的生命年ICER为9,084美元/年)，与参考策略相比，乳腺癌和卵巢癌的风险分别降低23%和41%。结论对50岁以下女性乳腺癌患者进行BRCA突变检测是一种经济有效的策略，应纳入当前的基因检测指南。
Purpose Every year approximately 25% of women diagnosed with breast cancer are younger than 50 years of age, and almost 10% of them have a BRCA mutation. Not all potential carriers are identified by existing criteria for BRCA testing. We estimated the costs and benefits of different BRCA testing criteria for women with breast cancer younger than 50 years.Methods We developed a Markov Monte Carlo simulation to compare six criteria for BRCA mutation testing: (1) no testing (reference); (2) medullary breast cancer in patients younger than 50 years; (3) any breast cancer in patients younger than 40 years; (4) triple negative (TN) breast cancer in patients younger than 40 years; (5) TN breast cancer in patients younger than 50 years; (6) any breast cancer in patients younger than 50 years. Net health benefits were life expectancy and quality-adjusted life expectancy, and primary outcome was the incremental cost-effectiveness ratio (ICER). The model estimated the number of new breast and ovarian cancer cases.Results BRCA mutation testing for all women with breast cancer who were younger than 50 years could prevent the highest number of breast and ovarian cancer cases, but with unfavorable ICERs. Testing women with TN breast cancers who were younger than 50 years was cost-effective with an ICER of $8,027 per year of life gained ($9,084 per quality-adjusted life-year), and could reduce subsequent breast and ovarian cancer risks by 23% and 41%, respectively, compared with the reference strategy.Conclusion Testing women with TN breast cancers who were younger than 50 years for BRCA mutations is a cost-effective strategy and should be adopted into current guidelines for genetic testing.