Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States
Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States
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DOI：
10.1200/jco.2008.17.5869
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发表时间：
2009-03-10
影响因子：
45.3
通讯作者：
Olopade, Olufunmilayo I.
中科院分区：
文献类型：
--
作者：
Huo, Dezheng;Senie, Ruby T.;Olopade, Olufunmilayo I.
目的BRCAPRO是一种BRCA突变携带者预测模型，是在对德系犹太人和欧洲血统个体的研究基础上开发的。我们评估了BRCAPRO模型在基于临床的少数民族家庭中的表现。我们还评估了突变状态的先证者（在一个家庭中的第一个人测试）的临床效用的建议BRCA突变检测其他处于危险中的家庭members.Patients和MethodsA共292个少数民族家庭，至少有一个成员谁是BRCA突变检测通过乳腺癌家庭登记处和芝加哥大学确定。使用BRCAPRO模型，预测携带BRCA突变的可能性。受试者工作特征曲线（AUC）下的面积calculated.ResultsThere是104非洲裔美国人，130西班牙裔，37亚裔美国人，和21个其他少数民族的家庭。所有少数民族合并的AUC为0.748（95% CI，0.672至0.823）。有一个统计学上不显着的趋势，BRCAPRO在西班牙裔家庭比其他少数民族家庭表现更好。在考虑先证者的突变状态后，BRCAPRO在其他受试家族成员中的表现得到改善：AUC从0.760增加到0.902。结论研究结果支持在临床环境中使用BRCAPRO预测少数民族家族的BRCA突变，但在西班牙裔以外的种族群体中仍有改进的空间。先证者突变状态的知识提供了额外的预测价值，这可能会指导遗传咨询师在先证者检测阴性时推荐其他亲属进行BRCA检测。
PurposeBRCAPRO, a BRCA mutation carrier prediction model, was developed on the basis of studies in individuals of Ashkenazi Jewish and European ancestry. We evaluated the performance of the BRCAPRO model among clinic-based minority families. We also assessed the clinical utility of mutation status of probands (the first individual tested in a family) in the recommendation of BRCA mutation testing for other at-risk family members.Patients and MethodsA total of 292 minority families with at least one member who was tested for BRCA mutations were identified through the Breast Cancer Family Registry and the University of Chicago. Using the BRCAPRO model, the predicted likelihood of carrying BRCA mutations was generated. Area under the receiver operating characteristic curves (AUCs) were calculated.ResultsThere were 104 African American, 130 Hispanic, 37 Asian-American, and 21 other minority families. The AUC was 0.748 (95% CI, 0.672 to 0.823) for all minorities combined. There was a statistically nonsignificant trend for BRCAPRO to perform better in Hispanic families than in other minority families. After taking into account the mutation status of probands, BRCAPRO performance in additional tested family members was improved: the AUC increased from 0.760 to 0.902.ConclusionThe findings support the use of BRCAPRO in pretest BRCA mutation prediction among minority families in clinical settings, but there is room for improvement in ethnic groups other than Hispanics. Knowledge of the mutation status of the proband provides additional predictive value, which may guide genetic counselors in recommending BRCA testing of additional relatives when a proband has tested negative.