BRCA1 and BRCA2 Mutations in Carcinoma Ovary: A Prospective Cohort Study

Epithelial ovarian cancer (EOC) is one of the leading fatal gynaecologic malignancies. The paradigm is shifting towards understanding of the molecular biology and genomics of the disease and exploiting them as a therapeutic potential.

We conducted a prospective observational analysis with newly diagnosed EOC unselected for a family or personal history of breast or ovarian cancer to estimate the period prevalence of germline BRCA1 and BRCA2 mutations in patients with EOC and compare the clinicopathological characteristics and outcome.

Between October 2019 and October 2021, 100 consecutive patients of newly diagnosed EOC who agreed to undergo BRCA mutation testing after counselling were enrolled in the study. Our study reported 30% incidence of germline BRCA mutation, whereas variants of undetected significance (VUS) was reported in 4 patients. 73.33% of the patients had (22/30) BRCA 1 gene mutations and 26.67% (8/30) of the patients harboured mutations in BRCA 2 gene. Expectedly frameshift mutations were the commonest among pathogenic alterations. 22.7% patients of BRCA1 associated ovarian cancer had positive family history for ovarian cancer. 25% of BRCA 2 associated ovarian cancer had family history of breast cancer as compared to 4.5% BRCA wild type tumours (p value =  < 0.001).

Our study indicates that there is a high prevalence of germline BRCA1/2 mutations amongst patients of EOC so it is of paramount importance in recent times to improve knowledge and awareness about the gBRCA testing among clinicians and patients.