Publications by authors named "Vyomesh Javle"
Deep Diving Into the Fusion Across Cancer Types in the Indian Population From Formalin-Fixed Paraffin-Embedded RNA-Exome Data: A Road to Discovering Novel Rearrangements With Clinical Relevance.
Satya Prakash Khuntia Nilesh Mukherjee Vyomesh Javle Nishtha AjitSingh Tanwar Peddagangannagari Sreekanthreddy
JCO Glob Oncol
November 2024
Article Synopsis
- Gene fusions, important mutations in cancer, are under-researched in India, despite rising cancer cases.
- This study analyzed RNA-exome data from 1,392 Indian cancer patients to identify and validate gene fusions using advanced tools and methods.
- Findings revealed a high prevalence of FGFR fusions and 91 novel potential driver fusions, highlighting their significance as diagnostic markers and therapeutic targets across various cancer types.
Introduction: The concept of personalized medicine in cancer has emerged rapidly with the advancement of genome sequencing and the identification of clinically relevant variants that contribute to disease prognosis and facilitates targeted therapy options. In this study, we propose to validate a whole exome-based tumor molecular profiling for DNA and RNA from formalin-fixed paraffin-embedded (FFPE) tumor tissue.
Methods: The study included 166 patients across 17 different cancer types.