CASP8 SNP D302H

• Published in: PloS one Vol. 9; no. 12
• Main Authors: Rihani, Ali, De Wilde, Bram, Zeka, Fjoralba, Laureys, Geneviève, Francotte, Nadine, Tonini, Gian Paolo, Coco, Simona, Versteeg, Rogier, Noguera, Rosa, Schulte, Johannes H, Eggert, Angelika, Stallings, Raymond L, Speleman, Frank, Vandesompele, Jo, Van Maerken, Tom
• Format: Journal Article
• Language: English
• Published: Public Library of Science 11.12.2014
• Subjects: Chromosomes; Neuroblastoma; Patient outcomes; Single nucleotide polymorphisms; Tumor proteins
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0114696

Neuroblastoma is a pediatric cancer that exhibits a wide clinical spectrum ranging from spontaneous regression in low-risk patients to fatal disease in high-risk patients. The identification of single nucleotide polymorphisms (SNPs) may help explain the heterogeneity of neuroblastoma and assist in identifying patients at higher risk for poor survival. SNPs in the TP53 pathway are of special importance, as several studies have reported associations between TP53 pathway SNPs and cancer. Of note, less than 2% of neuroblastoma tumors have a TP53 mutation at diagnosis. We selected 21 of the most frequently studied SNPs in the TP53 pathway and evaluated their association with outcome in 500 neuroblastoma patients using TaqMan allelic discrimination assays. We investigated the impact of 21 SNPs on overall survival, event-free survival, age at diagnosis, MYCN status, and stage of the disease in 500 neuroblastoma patients. A missense SNP in exon 10 of the CASP8 gene SNP D302H was associated with worse overall and event-free survival in patients with MYCN-amplified neuroblastoma tumors.