Novel mutations in the RING-finger domain of BRCA1 gene in clinically diagnosed breast cancer patients.

ABSTRACT: In the present study, we investigated the frequency of BRCA1 gene mutations in 30 breast cancer (BC) patients of independent family history and 30 healthy control subjects. The immunohistochemistry (IHC) of BC patients showed duct cell carcinoma and distinct expression of the human epidermal growth factor receptor 2 (HER2). The genomic DNA was extracted from the BC patients and control subjects, the BRCA1 gene was PCR amplified and sequenced. The sequence analysis revealed that BRCA1 gene mutations were detected in 5/30 (16.6%) unrelated patients. One novel deleterious c.53delT mutation was detected in 3/30 (10%) unrelated patients leading to p.Met18Serfs*5 frame shift mutation in exon 2. Two patients 2/30 (6%) had novel c.297_301delinsCTCAA mutation in exon 5 leading

SUBMITTER: Kumar PS 

PROVIDER: S-EPMC6957612 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature