Santosh Dixit

The paper presents a comprehensive genomic atlas of Indian populations, identifying novel variants and highlighting genetic diversity and pharmacogenomic implications.

The paper analyzes germline mutations in TNBC patients in India and identifies BRCA1/2 as the most common mutated genes, with novel mutations and a higher proportion of variants of uncertain significance in non-BRCA genes.

This study reports a silent BRCA2 mutation associated with hereditary breast cancer in a male patient and his family, highlighting its potential spliceogenic effect and clinical relevance.