Germline BRCA Mutation Rates in Latina Women Presenting for Gynecologic Oncology Care

Gynecol Obstet Invest. 2020;85(3):214-221. doi: 10.1159/000506108. Epub 2020 Mar 23.


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.

Keywords: BRCA mutations; Genetic testing; Racial disparities.

MeSH terms

  • Adult
  • African Americans / genetics
  • Asian Continental Ancestry Group / genetics
  • BRCA1 Protein / analysis*
  • BRCA2 Protein / analysis*
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / ethnology*
  • Breast Neoplasms / genetics
  • California / epidemiology
  • Early Detection of Cancer / statistics & numerical data*
  • Ethnic Groups / genetics
  • European Continental Ancestry Group / genetics
  • Female
  • Genetic Testing / statistics & numerical data
  • Germ-Line Mutation
  • Hispanic Americans / genetics*
  • Humans
  • Middle Aged
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / ethnology*
  • Ovarian Neoplasms / genetics
  • Referral and Consultation / statistics & numerical data


  • BRCA1 Protein
  • BRCA1 protein, human
  • BRCA2 Protein
  • BRCA2 protein, human