The CDKN2A G500 Allele Is More Frequent in GBM Patients with No Defined Telomere Maintenance Mechanism Tumors and Is Associated with Poorer Survival

作者: Janice A. Royds , Shafagh Al Nadaf , Anna K. Wiles , Yu-Jen Chen , Antonio Ahn

DOI: 10.1371/JOURNAL.PONE.0026737

关键词:

摘要: Prognostic markers for glioblastoma multiforme (GBM) are important patient management. Recent advances have identified prognostic GBMs that use telomerase or the alternative lengthening of telomeres (ALT) mechanism telomere maintenance. Approximately 40% no defined maintenance (NDTMM), with a mixed survival affected individuals. This study examined genetic variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) gene encodes p16(INK4a) and p14(ARF) tumor suppressors, isocitrate dehydrogenase 1 (IDH1) as potential 40 individuals NDTMM (telomerase negative ALT by standard assays), 50 telomerase, 17 positive tumors. The analysis CDKN2A showed had an increased minor allele frequency C500G (rs11515) polymorphism compared to those (p = 0.002). Patients G500 reduced was independent age, extent surgery, treatment. In group carriers loss dosage C500 homozygotes. An IDH1 mutations R132H mutation associated tumors, largely absent tumors cohort, were younger age individual. conclusion, from older poorer survival. Mutations not GBMs, instead marker

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