Triple-negative Breast Cancer and PTEN (Phosphatase and Tensin Homologue) Loss Are Predictors of BRCA1 Germline Mutations in Women With Early-onset and Familial Breast Cancer, but Not in Women With Isolated Late-onset Breast Cancer

Sze-Yee Phuah; Lai-Meng Looi; Norhashimah Hassan; Anthony Rhodes; Sarah Dean; Nur AM Taib; Cheng-Har Yip; Soo-Hwang Teo


Breast Cancer Res. 2012;14(6):R142 

In This Article


In previous studies and in our cohort of TNBC, a significant proportion of women have germline BRCA1 mutations. Our study shows that among women with early-onset breast cancer (≤35 years old) and with a family history of breast cancer, a higher prevalence of BRCA1 mutations is present in women with TNBC compared with women with non-TNBC. However, no difference in prevalence of BRCA1 and BRCA2 mutations is noted among women who develop isolated breast cancer aged 36 to 50 (7% to 8% prevalence in both TNBC and non-TNBC). Our study suggests that the current clinical recommendations of offering BRCA1 and BRCA2 genetic testing, even to women with isolated TNBC younger than 60 years, warrants further analysis.