A Pilot Study on Whole Exome Sequencing of Prostate Cancer in Indian Phenotype Reveals Distinct Polymorphisms

Prostate cancer (PCa) is a common cancer among men, and yet no next generation sequencing (NGS) studies in India have been attempted earlier. Recent advances in NGS have heralded the discovery of biomarkers from Caucasian/European and Chinese ancestry but not much is known about Indian phenotype/variant of PCa. In a pilot study using the whole exome sequencing of benign/PCa patients, we identified characteristic mutations specific to Indian sub-population. We observed a large number of mutations in DNA repair genes, viz. helicases, TP53 and BRCA besides the variants of unknownsignificance (VUS) with a possibly damaging rare variant (rs730881069/chr19:55154172C/TR136Q) in the TNNI3 gene that has been previously reported as a semi-conservative amino acid substitution.