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Somatic mutation analyses of stem-like cells in gingivobuccal oral squamous cell carcinoma reveals DNA damage response genes

Kumar, S and Rangarajan, A and Pal, D (2022) Somatic mutation analyses of stem-like cells in gingivobuccal oral squamous cell carcinoma reveals DNA damage response genes. In: Genomics, 114 (2).

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Official URL: https://doi.org/10.1016/j.ygeno.2022.110308

Abstract

Gingivobuccal oral squamous cell carcinoma (OSCC-GB) occurs among persons who excessively chew smokeless tobacco in India. To understand the role of cancer stem cells (CSCs) in the disease, we have performed transcriptomics analysis on RNA-seq data from OSCC-GB primary tumors. The mutational signature analysis of the identified novel and Catalogue of Somatic Mutations in Cancer (COSMIC) variants reveals DNA damage associated etiology based on identified COSMIC signatures showing a higher prevalence of C > T mutations and 1 bp T/(A) nucleotide insertions, pointing to the role of smokeless tobacco carcinogens. The differential somatic mutational, functional impact predictions, and survival analysis reveals the role of DNA damage response-related genes, with the CREBBP gene as a major player. The new CSC somatic variants identified in the study may play a crucial role in cancer metastasis, local-regional recurrence, chemo- and/or radioresistance that contributes to high mortality of the Indian OSCC-GB patients. © 2021

Item Type: Journal Article
Publication: Genomics
Publisher: Academic Press Inc.
Additional Information: The copyright for this article belongs to Authors
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Division of Interdisciplinary Sciences > Computational and Data Sciences
Division of Physical & Mathematical Sciences > Mathematics
Date Deposited: 16 Mar 2022 06:06
Last Modified: 16 Mar 2022 06:06
URI: http://eprints.iisc.ac.in/id/eprint/71434

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