Originally published as JCO Early Release 10.1200/JCO.2008.17.5869 on February 2 2009

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Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States

From the Department of Heath Studies; and Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago, Chicago, IL; Department of Epidemiology, Columbia University, New York, NY; Population Science Division, Fox Chase Cancer Center, Philadelphia, PA; and Department of Internal Medicine, University of Utah Health Sciences Center, Salt Lake City, UT.

Corresponding author: Olufunmilayo I. Olopade, MD, Center for Clinical Cancer Genetics and Global Health, Department of Medicine, Section of Hematology/Oncology, University of Chicago, 5841 S Maryland Ave, MC 2115, Chicago, IL 60637; e-mail: folopade{at}medicine.bsd.uchicago.edu.

Purpose BRCAPRO, 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 Methods A 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.

Results There 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.

Conclusion The 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.

Supported by National Cancer Institute Grant No. CA-RO1 89085-01A, by the Falk Medical Research Trust, and by the Entertainment Industry National Women's Cancer Research Alliance. O.I.O. is a McArthur Fellow.

Presented in part at the 30th Annual San Antonio Breast Cancer Symposium, December 13-16, 2007, San Antonio, TX; and at the 43rd Annual Meeting of the American Society of Clinical Oncology, June 1-5, 2007, Chicago, IL.

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.

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