Objective: Germline BRCA mutation rates in the Latina population are yet to be well described. We aimed to quantitate the rates of referral for genetic testing in qualifying women and testing completion rates in a population of women presenting for gynecologic oncology care. Results were then stratified by ethnic/racial background. Methods: Charts of new patients evaluated at a comprehensive cancer center in Southern California were reviewed. Patients qualifying for genetic testing in accordance with NCCN Guidelines version 1.2017 for breast and/or ovarian cancer genetic assessment were identified. The actual rates of prescriptions for genetic testing placed, testing completion rates, test results, as well as patients’ family history were abstracted. Data were analyzed with chi-square tests. Results: Five hundred and seventy-two of 2,053 patients met testing criteria, and 256/572 (45%) were prescribed testing in accordance with the guidelines. By ethnicity, testing was prescribed in 44% of Non-Hispanic White (NHW), 44% of Latina, 46% of African-American, and 60% of Asian (p = 0.6) patients. Testing was completed in 65% of NHW, 66% of Latina, 65% of African-American, and 67% of Asian patients (p = 0.97). Completion rates were low overall: 28% of those who met testing criteria were tested (p = 0.85). Pathogenic BRCA mutations were found in 29% of NHW and 21% of Latina, 45% of African-American, and 20% of Asian patients (p = 0.4). Conclusions: There was no difference by ethnicity in rates of testing prescription, completion, or presence of BRCA mutations. Overall, testing rates were suboptimal. BRCA mutations were found in large percentage of Latinas (21%). Further studies are underway to identify barriers to testing prescriptions and completion for Latina women.

Miller KD, Goding Sauer A, Ortiz AP, Fedewa SA, Pinheiro PS, Tortolero-Luna G, et al. Cancer Statistics for Hispanics/Latinos, 2018. CA Cancer J Clin. 2018 Nov;68(6):425–45.
Welcsh PL, King MC. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer. Hum Mol Genet. 2001 Apr;10(7):705–13.
Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996 Jun;77(11):2318–24.
Gayther SA, Pharoah PD. The inherited genetics of ovarian and endometrial cancer. Curr Opin Genet Dev. 2010 Jun;20(3):231–8.
Daly MB, Pilarski R, Berry M, Buys SS, Farmer M, Friedman S, et al. NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2017. J Natl Compr Canc Netw. 2017 Jan;15(1):9–20.
Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007 Apr;25(11):1329–33.
DeSantis CE, Fedewa SA, Goding Sauer A, Kramer JL, Smith RA, Jemal A. Breast cancer statistics, 2015: convergence of incidence rates between black and white women. CA Cancer J Clin. 2016 Jan-Feb;66(1):31–42.
Breast CL; Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999 Aug;91(15):1310–6.
Easton DF, Ford D, Bishop DT; Breast Cancer Linkage Consortium. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet. 1995 Jan;56(1):265–71.
Easton DF, Steele L, Fields P, Ormiston W, Averill D, Daly PA, et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet. 1997 Jul;61(1):120–8.
King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct;302(5645):643–6.
Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001 Mar;68(3):700–10.
Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997 May;336(20):1401–8.
Whittemore AS, Gong G, John EM, McGuire V, Li FP, Ostrow KL, et al. Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev. 2004 Dec;13(12):2078–83.
Manchanda R, Gaba F. Population Based Testing for Primary Prevention: A Systematic Review. Cancers (Basel). 2018 Nov;10(11):10.
Lieberman S, Tomer A, Ben-Chetrit A, Olsha O, Strano S, Beeri R, et al. Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral. Genet Med. 2017 Jul;19(7):754–62.
Manchanda R, Patel S, Antoniou AC, Levy-Lahad E, Turnbull C, Evans DG, et al. Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry. Am J Obstet Gynecol. 2017 Nov;217(5):578.e1–12.
Manchanda R, Burnell M, Gaba F, Desai R, Wardle J, Gessler S, et al. Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes. BJOG. 2020 Feb;127(3):364–75.
Manchanda R, Patel S, Gordeev VS, Antoniou AC, Smith S, Lee A, et al. Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women. J Natl Cancer Inst. 2018 Jul;110(7):714–25.
Initiative, W.C.H. The Screen Project.
Hall MJ, Reid JE, Burbidge LA, Pruss D, Deffenbaugh AM, Frye C, et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer. 2009 May;115(10):2222–33.
Bayraktar S, Jackson M, Gutierrez-Barrera AM, Liu D, Meric-Bernstam F, Brandt A, et al. Genotype-Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers. Breast J. 2015 May-Jun;21(3):260–7.
Weitzel JN, Lagos V, Blazer KR, Nelson R, Ricker C, Herzog J, et al. Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev. 2005 Jul;14(7):1666–71.
Weitzel JN, Clague J, Martir-Negron A, Ogaz R, Herzog J, Ricker C, et al. Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. J Clin Oncol. 2013 Jan;31(2):210–6.
Ossa CA, Torres D. Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review. Oncologist. 2016 Jul;21(7):832–9.
USA. Data USA: San Bernadino County, CA, 2019.
Guidelines, N.C.C.N.C.P.G.I.O.N.C.C.N. Genetic/Familial High-Risk Assessment: Breast and Ovarian - Version 1.2017, 2016.
Villarreal-Garza C, Alvarez-Gómez RM, Pérez-Plasencia C, Herrera LA, Herzog J, Castillo D, et al. Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer. 2015 Feb;121(3):372–8.
Alemar B, Herzog J, Brinckmann Oliveira Netto C, Artigalás O, Schwartz IV, Matzenbacher Bittar C, et al. Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. Cancer Genet. 2016 Sep;209(9):417–22.
Nahleh Z, Otoukesh S, Dwivedi AK, Mallawaarachchi I, Sanchez L, Saldivar JS, et al. Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. Am J Cancer Res. 2014 Dec;5(1):466–71.
Armstrong J, Toscano M, Kotchko N, Friedman S, Schwartz MD, Virgo KS, et al. Utilization and Outcomes of BRCA Genetic Testing and Counseling in a National Commercially Insured Population: the ABOUT Study. JAMA Oncol. 2015 Dec;1(9):1251–60.
Pan HY, Walker GV, Grant SR, Allen PK, Jiang J, Guadagnolo BA, et al. Insurance -Status and Racial Disparities in Cancer-Specific Mortality in the United States: A -Population-Based Analysis. Cancer Epidemiol Biomarkers Prev. 2017 Jun;26(6):869–75.
Childers CP, Childers KK, Maggard-Gibbons M, Macinko J. National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer. J Clin Oncol. 2017 Dec;35(34):3800–6.
Kurian AW, Ward KC, Howlader N, Deapen D, Hamilton AS, Mariotto A, et al. Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients. J Clin Oncol. 2019 May;37(15):1305–15.
Kurian AW, Griffith KA, Hamilton AS, Ward KC, Morrow M, Katz SJ, et al. Genetic Testing and Counseling Among Patients With Newly Diagnosed Breast Cancer. JAMA. 2017 Feb;317(5):531–4.
Vergote I, Banerjee S, Gerdes AM, van Asperen C, Marth C, Vaz F, et al. Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients. Eur J Cancer. 2016 Dec;69:127–34.
Mirza MR, Monk BJ, Herrstedt J, Oza AM, Mahner S, Redondo A, et al.; ENGOT-OV16/NOVA Investigators. Niraparib Maintenance Therapy in Platinum-Sensitive, Recurrent Ovarian Cancer. N Engl J Med. 2016 Dec;375(22):2154–64.
Moore K, Colombo N, Scambia G, Kim BG, Oaknin A, Friedlander M, et al. Maintenance Olaparib in Patients with Newly Diagnosed Advanced Ovarian Cancer. N Engl J Med. 2018 Dec;379(26):2495–505.
Foote JR, Secord AA, Liang MI, Ehrisman JA, Cohn DE, Jewell E, et al. Targeted composite value-based endpoints in platinum-sensitive recurrent ovarian cancer. Gynecol Oncol. 2019 Mar;152(3):445–51.
Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst. 2009 Jan;101(2):80–7.
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