నైరూప్య

BRCA- Asian Indian Cohort Finding

Sandhya Iyer, Shubham Kavishwar, Aarthi Ramesh, Rambaksh Prajapati, Madhura Basavalingegowda, Seema Todur, Somashekar S.P and Gowhar Shafi

Aim: BRCA diagnostic screening test is generally designed to identify pathogenic variants across the entire gene to positively detect occurrence of Familial Breast and Ovarian Syndrome. Though only 5-10% of the detected breast cancer cases, and 10-15% of the detected ovarian cancer cases have been positively linked with BRCA variations, this gene still becomes the primary source for screening in all cases. The need to categorically analyze the frequency of BRCA1/2 variations in different groups of Asians, have led to many early publications among Indian populations using various technologies which have been reported to bear drawbacks with relevance to reproducibility, false positive reporting, etc. Our report presents a landscape as well as frequency of BRCA1/2 variations detected using the Next-Generation Sequencing (NGS) technology.

Objective: To highlight the significance of BRCA-screening in early detection of familial Breast and Ovarian cancer syndrome using NGS technology.

Methods: A 51-gene NGS-targeted panel was used to screen a cohort of forty-nine affected as well as healthy individuals who had undergone hereditary cancer screening and BRCA screening test. A total of 51 genes including BRCA1 and BRCA2 was sequenced at a 1000X coverage using the Illumina Next Seq technology.

Results: Our findings report the frequency of BRCA1 to be 12.2%, while that of BRCA2 to be 8.2%, and is much higher than other populations as well as earlier published few Indian reports.

Conclusion: The frequency of BRCA1/2 variations detected in our cohort is higher than the frequency in North Indians.