title: Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort.
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.
authors: Department of Surgery, Duke University, Durham, NC, USA. rachel.greenup@duke.edu
authors: Rachel
authors: R
authors: Greenup
authors: Adam
authors: A
authors: Buchanan
authors: Wendy
authors: W
authors: Lorizio
authors: Keelia
authors: K
authors: Rhoads
authors: Salina
authors: S
authors: Chan
authors: Tracey
authors: T
authors: Leedom
authors: Robin
authors: R
authors: King
authors: Jane
authors: J
authors: McLennan
authors: Beth
authors: B
authors: Crawford
authors: P
authors: P
authors: Kelly Marcom
authors: E
authors: E
authors: Shelley Hwang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D044383:Black People / Q000235:genetics; D002140:California / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D015995:Prevalence; D011379:Prognosis; D012189:Retrospective Studies; D064726:Triple Negative Breast Neoplasms / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D044465:White People / Q000235:genetics; D001741:Black or African American
chemical_list: D019313:BRCA1 Protein; C492913:BRCA1 protein, human; D024682:BRCA2 Protein; C551750:BRCA2 protein, human