CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified neuroblastoma patients

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RESEARCH PRODUCT

CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified neuroblastoma patients

Franki Speleman Bram De Wilde Nadine Francotte Angelika Eggert Simona Coco Jo Vandesompele Rosa Noguera Fjoralba Zeka Gian Paolo Tonini Ali Rihani Rogier Versteeg Genevieve Laureys Johannes H. Schulte Tom Van Maerken Raymond L. Stallings

subject

Oncology Genotyping Techniques Medizin lcsh:Medicine Genome-wide association study PROGRESSION SUSCEPTIBILITY Bioinformatics Neuroblastoma CHEMOSENSITIVITY Medicine and Health Sciences Missense mutation lcsh:Science Oncogene Proteins Caspase 8 N-Myc Proto-Oncogene Protein Multidisciplinary CELL-LINE Nuclear Proteins CANCER APOPTOSIS GENOTYPE Gene Expression Regulation Neoplastic Research Article medicine.medical_specialty Single-nucleotide polymorphism Biology N-Myc Proto-Oncogene Protein Polymorphism Single Nucleotide Disease-Free Survival MDM2 SNP309 Molecular Genetics Neuroblastoma Internal medicine CASPASE-8 medicine Genetics Cancer Genetics SNP Humans neoplasms Neoplasm Staging Clinical Genetics P53 lcsh:R Gene Amplification Cancer Infant Biology and Life Sciences medicine.disease Pediatric cancer Geriatrics Genetics of Disease lcsh:Q

description

Background 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. Patients and Methods 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. Results and Conclusion 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. OA gold

year	journal	country	edition	language
2014-06-26

10.1371/journal.pone.0114696 https://hdl.handle.net/1854/LU-5849408