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.
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.
Authors: Thomas B Silverman; Gilad J Kuperman; Alejandro Vanegas; Margaret Sin; Jill Dimond; Katherine D Crew; Rita Kukafka Journal: AMIA Annu Symp Proc Date: 2018-12-05
Authors: Molly S Daniels; Sheri A Babb; Robin H King; Diana L Urbauer; Brittany A L Batte; Amanda C Brandt; Christopher I Amos; Adam H Buchanan; David G Mutch; Karen H Lu Journal: J Clin Oncol Date: 2014-03-17 Impact factor: 44.544
Authors: Jeffrey N Weitzel; Jessica Clague; Arelis Martir-Negron; Raquel Ogaz; Josef Herzog; Charité Ricker; Chelsy Jungbluth; Cheryl Cina; Paul Duncan; Gary Unzeitig; J Salvador Saldivar; Mary Beattie; Nancy Feldman; Sharon Sand; Danielle Port; Deborah I Barragan; Esther M John; Susan L Neuhausen; Garrett P Larson Journal: J Clin Oncol Date: 2012-12-10 Impact factor: 44.544
Authors: Cynthia Villarreal-Garza; Rosa María Alvarez-Gómez; Carlos Pérez-Plasencia; Luis A Herrera; Josef Herzog; Danielle Castillo; Alejandro Mohar; Clementina Castro; Lenny N Gallardo; Dolores Gallardo; Miguel Santibáñez; Kathleen R Blazer; Jeffrey N Weitzel Journal: Cancer Date: 2014-09-18 Impact factor: 6.860