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The 61 A/G EGF polymorphism is functional but is neither a prognostic marker nor a risk factor for glioblastoma

2006; Elsevier BV; Volume: 172; Issue: 1 Linguagem: Inglês

10.1016/j.cancergencyto.2006.07.013

1873-4456

Élodie Vauléon, Nathalie Auger, Alexandra Benouaich‐Amiel, Florence Laigle–Donadey, Gentian Kaloshi, Julie Lejeune, Jean‐Yves Delattre, Joëlle Thillet, Marc Sanson,

Neuroblastoma Research and Treatments

Abstract The A/G61 polymorphism located in the 5′UTR of the EGF gene has been found to be both a risk factor and a prognostic factor in glioblastoma (GBM), but the functional consequences have not been investigated. Here we show, in vitro, that this polymorphism is functional, in that the G allele promoter is 40% more active than the A variant ( P < 0.001). However, analysis of a large series of 209 GBM patients and 214 control subjects did not confirm that A/G61 polymorphism is a significant risk factor for GBM, despite a trend for higher GG frequency in these patients. Furthermore, A/G61 polymorphism was not a prognostic factor for survival in GBM patients, although it does appear to affect progression-free survival.