What question did this study set out to answer?

The research aims to identify the spectrum of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer patients from East India.

May 29, 2026

Spectrum of germline pathogenic and novel BRCA1 and BRCA2 gene mutations in a cohort of 1780 breast and ovarian carcinoma patients from east India.

Key Points

The research aims to identify the spectrum of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer patients from East India.
Conducted germline next generation sequencing on 1780 breast and ovarian carcinoma patients using ion torrent technology.
Applied bioinformatics analysis and ACMG guidelines for variant classification.
Identified prevalent gene mutations and novel variants in BRCA genes.
Out of 1780 patients, 232 (13%) had clinically significant BRCA1 or BRCA2 variants.
BRCA1 mutations were present in 68% of affected individuals, with exon-10 identified as the most mutated region.
21 novel variants were discovered, with a significant incidence of triple-negative breast cancer (37.5%).

Abstract

10614 Background: Advances in our understanding of the molecular basis of cancer have pushed us in a new era of personalized medicine in oncology. The adoption of personalized medicine in Breast cancer (BC) and Ovarian cancer (OC) care holds significant promise. Homologous recombination repair (HRR) process aids in the restoration of halted replication forks during DNA replication. Where, an effective HRR depends on the normal functioning of oncoproteins, BRCA1 and BRCA2 playing crucial roles. Methods: Germline Next Generation Sequencing based BRCA1 n = 158), followed by BRCA2 (32%; n = 74) across cohort. 48.2% of BRCA variants were noted in BC while 41.7% in OC and 10.1% in co-existing BC BRCA1; BRCA2; NGS; Precision therapeutics.

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