Association of EGFR c.2073A>T Polymorphism with Decreased Risk of Diffusely Infiltrating Astrocytoma in a Brazilian Case-Control Study

Author:

Barbosa K.C.1,Oba-Shinjo S.M.1,Uno M.1,Carvalho P.O.1,Rosemberg S.2,Aguiar P.H.P.1,Carlotti C.G.3,Malheiros S.M.F.4,Toledo S.5,Lotufo P.6,Marie S.K.N.1

Affiliation:

1. Department of Neurology, School of Medicine, University of São Paulo, São Paulo

2. Department of Pathology, School of Medicine, University of São Paulo, São Paulo

3. Department of Surgery, Division of Neurosurgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto

4. Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo

5. Department of Pediatrics, Pediatric Oncology Institute, Federal University of São Paulo, São Paulo

6. Hospital Universitario São Paulo, University of São Paulo, São Paulo - Brazil

Abstract

Epidermal growth factor receptor (EGFR) gene overexpression has been implicated in the development of many types of tumors, including glioblastomas, the most frequent diffusely infiltrating astrocytomas. However, little is known about the influence of the polymorphisms of EGFR on EGFR production and/or activity, possibly modulating the susceptibility to astrocytomas. This study aimed to examine the association of two EGFR promoter polymorphisms (c-191C>A and c.-216G>T) and the c.2073A>T polymorphism located in exon 16 with susceptibility to astrocytomas, EGFR gene expression and survival in a case-control study of 193 astrocytoma patients and 200 cancer-free controls. We found that the variant TT genotype of the EGFR c.2073A>T polymorphism was associated with a significantly decreased risk of astrocytoma when compared with the AA genotype [sex- and age-adjusted odds ratio 0.51, 95% confidence interval 0.26–0.98]. No association of the two promoter EGFR polymorphisms (or combinations of these polymorphisms) and risk of astrocytomas, EGFR expression or survival was found. Our findings suggest that modulation of the EGFR c.2073A>T polymorphism could play a role in future therapeutic approaches to astrocytoma.

Publisher

SAGE Publications

Subject

Cancer Research,Clinical Biochemistry,Oncology,Pathology and Forensic Medicine

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