High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.

ABSTRACT:

Background

Women harboring BRCA1/2 germline mutations have high lifetime risk of developing breast/ovarian cancer. The recommendation to pursue BRCA1/2 testing is based on patient's family history of breast/ovarian cancer, age of disease-onset and/or pathologic parameters of breast tumors. Here, we investigated if diagnosis of triple-negative breast cancer (TNBC) independently increases risk of carrying a BRCA1/2 mutation in Pakistan.

Methods

Five hundred and twenty-three breast cancer patients including 237 diagnosed ≤ 30 years of age and 286 with a family history of breast/ovarian cancer were screened for BRCA1/2 small-range mutations and large genomic rearrangements. Immunohistochemical analyses were performed at one center. Univariate and multiple logistic regression mod

SUBMITTER: Rashid MU 

PROVIDER: S-EPMC4995655 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature