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

Department of Surgery, Duke University, Durham, NC, USA, .
Annals of Surgical Oncology (Impact Factor: 3.94). 08/2013; 20(10). DOI: 10.1245/s10434-013-3205-1
Source: PubMed

ABSTRACT 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.
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.
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 %).
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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    • "which is strongly connected with the loss of function of BRCA1/2 genes (Greenup et al., 2013). The association of TNBC with BRCA1 and BRCA2 mutations allows early identification of patients who were affected by hereditary cancer syndromes and it has important treatment implications for patients and their families (Greenup et al., 2013). To date, studies about miRNA alterations in TNBC were commonly performed in cell lines and clinical samples which have not been tested for BRCA mutations, and these studies were focused on determination of aberrant miRNA expression in this disease (Radojicic et al., 2011; Howe et al., 2012; Cascione et al., 2013; D'Ippolito and Iorio, 2013). "
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