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

  • Epidemiology
  • Published:
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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.

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Acknowledgments

We thank the following genetic counselors who saw the patients who participated in this study (besides TD and BNP): Rachel Nusbaum MS, CGC, Gillian Hooker PhD, MS, and Morgan Similuk, MGC, CGC. We thank the endowed Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research, and Genentech for the grant received for genetic counseling and testing.

Funding

This study was supported by the Familial Cancer Registry and Nontherapeutic Subject Registry Shared Resource at Lombardi Comprehensive Cancer Center, and was partially supported by the National Institutes of Health Grant P30-CA-51008. Study data were collected and managed using REDCap electronic data capture tools hosted at Georgetown University Medical Center. Ms. Peshkin and Dr. Isaacs received support from the endowed Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research.

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Authors and Affiliations

  1. Division of Hematology/Oncology, Lombardi Comprehensive Cancer Center, MedStar Georgetown University Hospital, 3800 Reservoir Rd NW Podium C, Washington, DC, 20007, USA

    Filipa Lynce

  2. Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, USA

    Karen Lisa Smith

  3. George Washington University, Washington, DC, USA

    Julie Stein

  4. Inova Fairfax Hospital, Falls Church, VA, USA

    Tiffani DeMarco

  5. Department of Biostatistics, Bioinformatics and Biomathematics, Georgetown University, Washington, DC, USA

    Yiru Wang & Hongkun Wang

  6. MedStar Washington Hospital Center, Washington, DC, USA

    Melissa Fries

  7. Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA

    Beth N. Peshkin & Claudine Isaacs

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  1. Filipa Lynce
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  2. Karen Lisa Smith
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Correspondence to Filipa Lynce.

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Lynce, F., Smith, K.L., Stein, J. et al. Deleterious BRCA1/2 mutations in an urban population of Black women. Breast Cancer Res Treat 153, 201–209 (2015). https://doi.org/10.1007/s10549-015-3527-8

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  • DOI: https://doi.org/10.1007/s10549-015-3527-8

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