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BRCA1 and BRCA2 Genetic Testing in Hispanic Patients: Mutation Prevalence and Evaluation of the BRCAPRO Risk Assessment Model

Kristen J. Vogel, Deann P. Atchley, Julie Erlichman, Kristine R. Broglio, Kaylene J. Ready, Vicente Valero, Christopher I. Amos, Gabriel N. Hortobagyi, Karen H. Lu, Banu Arun

From the Center for Medical Genetics, Evanston Northwestern Healthcare, Evanston, IL; Departments of Breast Medical Oncology, Gynecologic Oncology, Biostatistics, and Epidemiology, The University of Texas, M.D. Anderson Cancer Center, Houston, TX; and the University of Pennsylvania Abramson Cancer Center, Philadelphia, PA

Address reprint requests to Banu Arun, MD, The University of Texas M.D. Anderson Cancer Center, Department of Breast Medical Oncology, Unit 1354, 1515 Holcombe Blvd, Houston, TX, 77030; e-mail: barun{at}mdanderson.org

Purpose: The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using mutation frequencies of white and Ashkenazi Jewish populations, and may not be applicable to other populations. BRCAPRO was recently validated in African Americans, although has yet to be examined in Hispanics. This retrospective study reports the mutation frequency and spectrum of BRCA1 and BRCA2 mutations in a Hispanic population and evaluates the BRCAPRO model in Hispanics.

Patients and Methods: A descriptive analysis of mutation frequency and spectrum was performed for Hispanic patients who underwent BRCA1 and BRCA2 genetic testing at a single institution. For comparative analysis of the BRCAPRO risk model, Hispanic patients who underwent comprehensive analysis were compared with white controls using area under the receiver operating characteristic curves (AUROC).

Results: Fourteen Hispanic individuals who underwent comprehensive analysis were identified to carry a mutation in BRCA1 or BRCA2 (17.9%; 95% CI, 10.2% to 28.3%) and seven individuals had a variant of uncertain significance (9.0%; 95% CI, 12.0% to 30.8%). A total of eight different mutations and three variants were observed within the entire Hispanic population. When evaluating the performance of the BRCAPRO model, the AUROC for Hispanics was 0.774 (95% CI, 0.63 to 0.90), compared with the AUROC of 0.770 (95% CI, 0.65 to 0.89) for whites.

Conclusion: Deleterious BRCA1 and BRCA2 mutations occur at considerable frequency within the Hispanic population, many of which have been identified previously in other ethnic populations. The BRCAPRO model appears to perform equally well in Hispanics as in whites.

Presented in part at the 5th Annual American Association for Cancer Research International Conference: Frontiers in Cancer Prevention Research, November 12-15, 2006, Boston, MA.

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