Abstract

The aim of this study was to investigate the expression of the excision repair cross-complementation group 1 (ERCC1) in oral squamous cell carcinoma (OSCC) and the possible association of ERCC1 polymorphisms with susceptibility and response to chemotherapy of OSCC in a Chinese Han population. The expression of ERCC1 was determined by real-time PCR in eight patients. Four single-nucleotide polymorphisms (SNPs) rs11615, rs3212948, rs3212961, and rs735482 of ERCC1 were genotyped in 113 OSCC patients and 184 healthy controls using a PCR restriction matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) assay. We found that a higher gene expression of ERCC1 was observed in tumor tissue as compared to pericarcinomatous tissue in OSCC patients. All genotypic and allelic frequencies of the tested ERCC1 polymorphisms were in Hardy-Weinberg equilibrium. The genotypic and allelic frequencies of rs11615, rs3212948, rs3212961, and rs735482 of ERCC1 were not different between OSCC patients and controls. No correlation was observed between ERCC1 polymorphisms and the response to chemotherapy. Our results show that ERCC1 is increased in the tumor tissue of OSCC patients. The investigated ERCC1 gene polymorphisms (rs11615, rs3212948, rs3212961, and rs735482) are not associated with the susceptibility and response to chemotherapy of OSCC in our investigated Chinese Han population.

Highlights

  • Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer in the world

  • The results showed that the gene expression of excision repair cross-complementation group 1 (ERCC1) in carcinoma tissue (0:67 ± 0:29) was significantly higher than that in corresponding normal pericarcinomatous tissue (0:27 ± 0:13, P = 0:001) of Oral squamous cell carcinoma (OSCC) patients (Figure 1)

  • We investigated the associations of four different ERCC1 single-nucleotide polymorphisms (SNPs) with the risk of developing OSCC

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Summary

Introduction

Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer in the world. Oral squamous cell carcinoma (OSCC) is the most common type of HNSCC, and China has one of the highest incidences of this type of cancer [1]. Recent studies have suggested that genetic factors are associated with the risk of OSCC, including polymorphisms of CYP1A1, EC-SOD, GSTT1, GSTM1, and ALDH2 [3, 4]. Environmental factors such as smoking and drinking history are associated with the susceptibility to OSCC [4]. The exact role of these genetic factors in the pathogenesis of OSCC is not well understood, and more studies are needed using larger sample sizes in different ethnic populations

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