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Prevalence of BRCA Mutations Among Women with Triple-Negative Breast Cancer (TNBC) in a Genetic Counseling Cohort

  • Breast Oncology
  • Published:
Annals of Surgical Oncology Aims and scope Submit manuscript

Abstract

Background

Revised NCCN guidelines recommend that women ≤60 years with triple-negative breast cancer (TNBC) be referred for consideration of genetic counseling. Small, homogeneous samples have limited evaluation of BRCA mutation prevalence among different ethnicities affected by TNBC subtype. We sought to determine whether the prevalence of BRCA mutations within a TNBC cohort differs by demographic factors.

Methods

We performed a retrospective review of patients with TNBC referred for genetic counseling at two academic Hereditary Cancer Clinics between 2000 and 2012. Demographic data were collected, including age at diagnosis and race/ethnicity. Race was categorized as African American (AA), Ashkenazi Jewish (AJ), Asian, Caucasian, Hispanic, or other. Primary outcome was BRCA mutation status, analyzed by race/ethnicity and age at diagnosis.

Results

A total of 469 patients with TNBC who underwent testing for BRCA genetic mutations were identified, of which 450 patients had evaluable BRCA testing results; 139 (30.8 %) had confirmed BRCA1 (n = 106) or BRCA2 (n = 32) mutations. BRCA mutation prevalence differed by ethnicity and race: AA (20.4 %), AJ (50 %), Asian (28.5 %), Caucasian (33.3 %), and Hispanic (20 %). The prevalence of genetic mutations also differed by age at diagnosis: <40 years (43.8 %), 40–49 years (27.4 %), 50–59 years (25.3 %), 60–69 years (12.5 %), and >70 years (16.6 %).

Conclusions

The prevalence of genetic mutations among women with TNBC referred for genetic counseling is high and differs significantly by ethnicity/race and age. This data helps to refine mutation risk estimates among women with TNBC, allowing for more personalized genetic counseling potentially aiding in improved patient decision-making.

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Authors and Affiliations

  1. Department of Surgery, Duke University, Durham, NC, USA

    Rachel Greenup MD, MPH, Wendy Lorizio MD, MPH & E. Shelley Hwang MD, MPH

  2. Department of Medicine, Duke University, Durham, NC, USA

    P. Kelly Marcom MD

  3. Duke Cancer Institute, Durham, NC, USA

    Rachel Greenup MD, MPH, Adam Buchanan MPH, MS, Keelia Rhoads PhD, Tracey Leedom MS, Robin King MS, P. Kelly Marcom MD & E. Shelley Hwang MD, MPH

  4. University of California San Francisco Comprehensive Cancer Center, San Francisco, CA, USA

    Salina Chan MD, Jane McLennan MD, PhD & Beth Crawford MS

Authors
  1. Rachel Greenup MD, MPH
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  2. Adam Buchanan MPH, MS
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  3. Wendy Lorizio MD, MPH
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  4. Keelia Rhoads PhD
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  5. Salina Chan MD
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  6. Tracey Leedom MS
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  7. Robin King MS
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  8. Jane McLennan MD, PhD
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  9. Beth Crawford MS
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  10. P. Kelly Marcom MD
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  11. E. Shelley Hwang MD, MPH
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Corresponding author

Correspondence to Rachel Greenup MD, MPH.

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Greenup, R., Buchanan, A., Lorizio, W. et al. Prevalence of BRCA Mutations Among Women with Triple-Negative Breast Cancer (TNBC) in a Genetic Counseling Cohort. Ann Surg Oncol 20, 3254–3258 (2013). https://doi.org/10.1245/s10434-013-3205-1

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  • DOI: https://doi.org/10.1245/s10434-013-3205-1

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