Publications by authors named "Hitesh Madan Goswami"

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.
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Purpose: The purpose of this study was to understand the impact of population diversity and geographic variation on tumor mutation burden (TMB) scores across cancers and its implication on stratification of patients for immune checkpoint inhibitor (ICI) therapy.

Materials And Methods: This retrospective study used whole-exome sequencing (WES) to profile 1,233 Indian patients with cancer across 30 different cancer types and to estimate their TMB scores. A WES-based pipeline was adopted, along with an indigenously developed strategy for arriving at true somatic mutations.

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