Single nucleotide polymorphism rs17849071 G/T in the PIK3CA gene is inversely associated with oral cancer

Abstract

Purpose Oral squamous cell carcinoma (OSCC)-a subset ofhead and neck cancer is the sixth most common cancer worldwide and leading disease in India. The genes involved in PI3 K/AKT (Phosphatidylinositol 3-kinase-Akt) pathway, such as PIK3CA (Phosphoinositide-3-kinase catalytic α) and PTEN (Phosphatase and tensin homologue) were found to be associated with OSCC. The present study was aimed to find the genetic association of various polymorphisms in intron 9 of the PIK3CA gene and intron 5 of PTEN gene with primary OSCC tumors. Methodology 50 OSCC patients for PIK3CA gene, 60 OSCC patients for PTEN gene and 72 healthy individuals were included in the study. PCR-direct sequencing analyzed the polymorphisms in intron 9 of PIK3CA and intron 5 of PTEN gene. Results and conclusion We observed rs114587137 (C>T) and rs17849071 (T>G) SNPs in intron 9 of the PIK3CA gene and rs35560700 (C>T) SNP in intron 5 of the PTEN gene. T allele of rs17849071 (T>G) was associated with the high-risk allele for developing OSCC; while G allele seemed to have the protective effect against OSCC (P = 0.02). We found an inverse association of rs17849071 (T>G) with OSCC development. Keywords OSCC · PIK3CA · PTEN · SNP · IndianAbbreviations PIK3CA Phosphoinositide-3-kinase catalytic α PTEN Phosphatase and tensin homologue OSCC Oral squamous cell carcinoma HNSCC Head and neck squamous cell carcinomas SNP Single nucleotide polymorphism

Impact of tobacco smoking on oral cancer genetics—A next‐generation sequencing perspective

“…Highly frequent mutations in this gene were first reported by Samuel et al [ 35 ], which vary from 0% to 21% [ 36 , 37 ]. A study from India found polymorphism rs17849071 G/T in this gene to be inversely linked to OC [ 38 ]. A significant correlation between somatic mutations and disease stage was also reported [ 39 ].…”

Role of Human Papillomavirus and Its Association With an Indian OSCC Subjects

“…The HPV screening must require before any genetic analysis of the cancer patient. This is the personalized medicine era, based on the patient's genomic pro le; the prognosis of the patients can be improved [70]. The patients with HPV infection has better prognosis than any other personal history.…”

Resistin Gene Polymorphisms: Potential Biomarker for Oral Squamous Cell Carcinoma

“…The exposure to betel quid and tobacco carcinogens can result in the commencement of oral cancer. The exposure to carcinogens released by tobacco smoke and betel quid chewing for a long time results in augmenting chronic inflammatory reactions in oral tissues, which consequently leads to genetic alterations and finally causes oral carcinogenesis [7][8][9]. Keeping this in mind, we checked the collective impact of RETN SNPs and these environmental carcinogens.…”

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