Exploring genetic variants of BRCA1 and BRCA2 in Indian Breast Cancer cases

Breast Cancer (BC) incidences are rapidly rising in India due to major contributions from BRCA1 and BRCA2 gene mutations. The mutational variations in BRCA1/2 are influenced by the population and ethnic heterogeneity of India. To present the associated variants in BRCA1/2 in BC cases studied from different Indian populations, a systematic review was conducted. A comprehensive PubMed search was conducted followed by PRISMA guidelines to identify reported variants in BRCA1/2 in different Indian geographical regions and ethnic population-based BC cases. Following strict inclusion and exclusion criteria, a total of 9 research articles were finally included for synthesis of results. A total of 75 (42 in BRCA1 and 33 in BRCA2 ) variants were retrieved from nine original research articles. The included studies were carried out in Southern, Northern and Western Indian Populations. The mutational prevalence of BRCA1 was higher than BRCA2 in the BC cases from different Indian populations. Among the retrieved BRCA1/2 variants, g.185delAG and p.Glu1593Asp found both in south and north Indian BC cases respectively. According to the reported data, there was a huge heterogeneity in BRAC1/2 mutations found in BC cases from different Indian populations. More studies are warranted to be carried out in diverse Indian biogeography with higher sample sizes.