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

• Published in: Annals of surgical oncology Vol. 20; no. 10; pp. 3254 - 3258
• Main Authors: Greenup, Rachel, Buchanan, Adam, Lorizio, Wendy, Rhoads, Keelia, Chan, Salina, Leedom, Tracey, King, Robin, McLennan, Jane, Crawford, Beth, Kelly Marcom, P., Shelley Hwang, E.
• Format: Journal Article
• Language: English
• Published: Boston Springer US 01.10.2013; Springer Nature B.V
• Subjects: Adult; Aged; Asian People - genetics; Black or African American; Black People - genetics; BRCA1 Protein - genetics; BRCA2 Protein - genetics; Breast Oncology; California - epidemiology; Female; Follow-Up Studies; Genetic Counseling; Genetic Predisposition to Disease; Humans; Medicine; Medicine & Public Health; Middle Aged; Mutation - genetics; Neoplasm Staging; Oncology; Prevalence; Prognosis; Retrospective Studies; Surgery; Surgical Oncology; Triple Negative Breast Neoplasms - diagnosis; Triple Negative Breast Neoplasms - epidemiology; Triple Negative Breast Neoplasms - genetics; White People - genetics; California; National Comprehensive Cancer Network; Genetic Testing; BRCA Mutation; Genetic Counseling
• ISSN: 1068-9265; 1534-4681; 1534-4681
• DOI: 10.1245/s10434-013-3205-1

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.