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扩大乳腺癌幸存者中 BRCA 基因突变检测的标准。

Expanding the criteria for BRCA mutation testing in breast cancer survivors.

机构信息

Division of Gynecologic Oncology, University of British Columbia and British Columbia Cancer Agency, Vancouver, British Columbia, Canada.

出版信息

J Clin Oncol. 2010 Sep 20;28(27):4214-20. doi: 10.1200/JCO.2010.28.0719. Epub 2010 Aug 23.

DOI:10.1200/JCO.2010.28.0719
PMID:20733129
Abstract

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.

摘要

目的

每年约有 25%被诊断患有乳腺癌的女性年龄小于 50 岁,其中近 10%存在 BRCA 突变。并非所有潜在的携带者都符合现有 BRCA 检测标准。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效益。

方法

我们开发了一个马尔可夫蒙特卡罗模拟,以比较 6 种 BRCA 突变检测标准:(1)不进行检测(参考);(2)50 岁以下患者的髓样乳腺癌;(3)40 岁以下患者的任何乳腺癌;(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 岁以下患者的任何乳腺癌。净健康效益是预期寿命和质量调整生命年,主要结果是增量成本效益比(ICER)。该模型估计了新的乳腺癌和卵巢癌病例数。

结果

对所有 50 岁以下患有乳腺癌的女性进行 BRCA 突变检测可以预防最多的乳腺癌和卵巢癌病例,但具有不利的 ICER。对 50 岁以下患有 TN 乳腺癌的女性进行检测具有成本效益,ICER 为每年 8027 美元(每质量调整生命年 9084 美元),与参考策略相比,可分别降低 23%和 41%的后续乳腺癌和卵巢癌风险。

结论

对 50 岁以下患有 TN 乳腺癌的女性进行 BRCA 突变检测是一种具有成本效益的策略,应纳入当前的遗传检测指南。

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