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01-09-2014 | Research Article

A pilot study evaluating genetic alterations that drive tobacco- and betel quid-associated oral cancer in Northeast India

Authors: Dhirendra Singh Yadav, Indranil Chattopadhyay, Anand Verma, Thoudam Regina Devi, L. C. Singh, Jagannath Dev Sharma, Amal Ch. Kataki, Sunita Saxena, Sujala Kapur

Published in: Tumor Biology | Issue 9/2014

Abstract

The susceptibility of an individual to oral cancer is mediated by genetic factors and carcinogen-exposure behaviors such as betel quid chewing, tobacco use, and alcohol consumption. This pilot study was aimed to identify the genetic alteration in 100 bp upstream and downstream flanking regions in addition to the exonic regions of 169 cancer-associated genes by using Next Generation sequencing with aim to elucidate the molecular pathogenesis of tobacco- and betel quid-associated oral cancer of Northeast India. To understand the role of chemical compounds present in tobacco and betel quid associated with the progression of oral cancer, single nucleotide polymorphisms (SNPs) and insertion and deletion (Indels) found in this study were analyzed for their association with chemical compounds found in tobacco and betel quid using Comparative Toxogenomic Database. Genes (AR, BRCA1, IL8, and TP53) with novel SNP were found to be associated with arecoline which is the major component of areca nut. Genes (BARD1, BRCA2, CCND2, IGF1R, MSH6, and RASSF1) with novel deletion and genes (APC, BRMS1, CDK2AP1, CDKN2B, GAS1, IGF1R, and RB1) with novel insertion were found to be associated with aflatoxin B1 which is produced by fermented areca nut. Genes (ADH6, APC, AR, BARD1, BRMS1, CDKN1A, E2F1, FGFR4, FLNC, HRAS, IGF1R, IL12B, IL8, NBL1, STAT5B, and TP53) with novel SNP were found to be associated with aflatoxin B1. Genes (ATM, BRCA1, CDKN1A, EGFR, IL8, and TP53) with novel SNP were found to be associated with tobacco specific nitrosamines.

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Title: A pilot study evaluating genetic alterations that drive tobacco- and betel quid-associated oral cancer in Northeast India
Authors: Dhirendra Singh Yadav
Indranil Chattopadhyay
Anand Verma
Thoudam Regina Devi
L. C. Singh
Jagannath Dev Sharma
Amal Ch. Kataki
Sunita Saxena
Sujala Kapur
Publication date: 01-09-2014
Publisher: Springer Netherlands
Published in: Tumor Biology / Issue 9/2014
Print ISSN: 1010-4283
Electronic ISSN: 1423-0380
DOI: https://doi.org/10.1007/s13277-014-2222-4

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