Deleterious BRCA1/2 mutations in an urban population of Black women

Breast Cancer Res Treat. 2015 Aug;153(1):201-9. doi: 10.1007/s10549-015-3527-8. Epub 2015 Aug 7.

Abstract

Information on the prevalence of deleterious BRCA1 and BRCA2 (BRCA1/2) mutations in clinic-based populations of Black women is limited. In order to address this gap, we performed a retrospective study to determine the prevalence of deleterious BRCA1/2 mutations, predictors of having a mutation, and acceptance of risk-reducing surgeries in Black women. In an urban unselected clinic-based population, we evaluated 211 self-identified Black women who underwent genetic counseling for hereditary breast-ovarian cancer syndrome. BRCA1/2 mutations were identified in 13.4% of the participants who received genetic testing. Younger age at diagnosis, higher BRCAPRO score, significant family history, and diagnosis of triple-negative breast cancer were associated with identification of a BRCA1/2 mutation. Of the affected patients found to have a deleterious mutation, almost half underwent prophylactic measures. In our study population, 1 in 7 Black women who underwent genetic testing harbored a deleterious BRCA1/2 mutation independent of age at diagnosis or family history.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Black People / genetics*
  • District of Columbia / epidemiology
  • District of Columbia / ethnology
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling
  • Genetic Testing
  • Hereditary Breast and Ovarian Cancer Syndrome / epidemiology
  • Hereditary Breast and Ovarian Cancer Syndrome / genetics
  • Humans
  • Middle Aged
  • Mutation*
  • Population Surveillance*
  • Prognosis
  • Registries
  • Retrospective Studies
  • Triple Negative Breast Neoplasms / epidemiology
  • Triple Negative Breast Neoplasms / genetics
  • Urban Population*
  • Young Adult