Abstract

Molecular Spectrum of BRCA Gene Mutation in Indian Scenario

Firoz Ahmed, Research Scientist, SRL Diagnostics

Carcinoma of breast is one of the most prevalent cancers in Indian females, and the incidence of breast cancer has been increasing in India. Because Indian patients develop breast cancer at a younger age than their Caucasian counterparts, the contributions of BRCA1 and BRCA2 (BRCA1/2) mutations in Indians are expected to be different than in Caucasians. Although identification of BRCA1 and BRCA2 has greatly increased our understanding of breast cancer genetics in populations of Western European descent, reports about the role of these genes in Indian patients are limited. In the current report, by using next generation sequencing (NGS) tools, we will be discussing the prevalence and distribution pattern of BRCA1/2 gene mutations in Indian patients. The study highlights how Next generation sequencing (NGS) based testing increase the sensitivity of mutation detection, and help in identifying patients with high risk of developing cancer. New advances in genomic technologies, such as next-generation sequencing (NGS), allow the sequencing and analysis of genes associated with a disease/cancer efficiently at a significantly lower cost as compared with the traditional methods.