AUTHOR=Gupta Ayam , Shukla Nidhi , Nehra Mamta , Gupta Sonal , Malik Babita , Mishra Ashwani Kumar , Vijay Maneesh , Batra Jyotsna , Lohiya Nirmal Kumar , Sharma Devendra , Suravajhala Prashanth 

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

JOURNAL=Frontiers in Genetics

VOLUME=Volume 11 - 2020

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00874

DOI=10.3389/fgene.2020.00874

ISSN=1664-8021

ABSTRACT=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 unknown
significance (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.
While we delved into these polymorphisms, we believe these observations are prelude to warrant
further research in bringing better understanding of PCa prognosis and recurrence for Indian
phenotype.