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Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.

Publication ,  Journal Article
Greenup, R; Buchanan, A; Lorizio, W; Rhoads, K; Chan, S; Leedom, T; King, R; McLennan, J; Crawford, B; Kelly Marcom, P; Shelley Hwang, E
Published in: Ann Surg Oncol
October 2013

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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Published In

Ann Surg Oncol

DOI

EISSN

1534-4681

Publication Date

October 2013

Volume

20

Issue

10

Start / End Page

3254 / 3258

Location

United States

Related Subject Headings

  • White People
  • Triple Negative Breast Neoplasms
  • Retrospective Studies
  • Prognosis
  • Prevalence
  • Oncology & Carcinogenesis
  • Neoplasm Staging
  • Mutation
  • Middle Aged
  • Humans
 

Citation

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Greenup, R., Buchanan, A., Lorizio, W., Rhoads, K., Chan, S., Leedom, T., … Shelley Hwang, E. (2013). Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. Ann Surg Oncol, 20(10), 3254–3258. https://doi.org/10.1245/s10434-013-3205-1
Greenup, Rachel, Adam Buchanan, Wendy Lorizio, Keelia Rhoads, Salina Chan, Tracey Leedom, Robin King, et al. “Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.Ann Surg Oncol 20, no. 10 (October 2013): 3254–58. https://doi.org/10.1245/s10434-013-3205-1.
Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, et al. Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. Ann Surg Oncol. 2013 Oct;20(10):3254–8.
Greenup, Rachel, et al. “Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.Ann Surg Oncol, vol. 20, no. 10, Oct. 2013, pp. 3254–58. Pubmed, doi:10.1245/s10434-013-3205-1.
Greenup R, Buchanan A, Lorizio W, Rhoads K, Chan S, Leedom T, King R, McLennan J, Crawford B, Kelly Marcom P, Shelley Hwang E. Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort. Ann Surg Oncol. 2013 Oct;20(10):3254–3258.
Journal cover image

Published In

Ann Surg Oncol

DOI

EISSN

1534-4681

Publication Date

October 2013

Volume

20

Issue

10

Start / End Page

3254 / 3258

Location

United States

Related Subject Headings

  • White People
  • Triple Negative Breast Neoplasms
  • Retrospective Studies
  • Prognosis
  • Prevalence
  • Oncology & Carcinogenesis
  • Neoplasm Staging
  • Mutation
  • Middle Aged
  • Humans