title: CASP8 SNP D302H (rs1045485) is associated with worse survival in MYCN-amplified neuroblastoma patients.
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Ali
authors.initials: A
authors.lastname: Rihani
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Bram
authors.initials: B
authors.lastname: De Wilde
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Fjoralba
authors.initials: F
authors.lastname: Zeka
authors.affiliation: Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Laureys
authors.affiliation: Département de pédiatrie, hémato-oncologie, SUHOPL- CHC (Service Universitaire d'HématoOncologie Pédiatrique Centre Hospitalier Chrétien) Espérance, St Nicolas Belgium.
authors.forename: Nadine
authors.initials: N
authors.lastname: Francotte
authors.affiliation: Neuroblastoma Laboratory, Onco/Hematology Laboratory, Department of Women's and Children's Health, University of Padua, Pediatric Research Institute, Fondazione Città della Speranza, Padua, Italy.
authors.forename: Gian Paolo
authors.initials: GP
authors.lastname: Tonini
authors.affiliation: Lung Cancer Unit, IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), Azienda Ospedaliera Universitaria San Martino - IST (Istituto Nazionale per la Ricerca sul Cancro), Genoa, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Coco
authors.affiliation: Departement of Human Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
authors.forename: Rogier
authors.initials: R
authors.lastname: Versteeg
authors.affiliation: Department of Pathology, Medical School, University of Valencia, Valencia, Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Noguera
authors.affiliation: German Cancer Consortium (DKTK), Germany; Translational Neuro-Oncology, West German Cancer Center, University Hospital Essen, University Duisburg-Essen, Essen, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany; Department of Pediatric Oncology and Haematology, University Children's Hospital Essen, Essen, Germany; Centre for Medical Biotechnology, University Duisburg-Essen, Essen, Germany.
authors.forename: Johannes H
authors.initials: JH
authors.lastname: Schulte
authors.affiliation: Department of Pediatric Oncology and Haematology, University Children's Hospital Essen, Essen, Germany.
authors.forename: Angelika
authors.initials: A
authors.lastname: Eggert
authors.affiliation: Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, and National Children's Research Centre, Dublin, Ireland.
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Stallings
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Frank
authors.initials: F
authors.lastname: Speleman
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Jo
authors.initials: J
authors.lastname: Vandesompele
authors.affiliation: Center for Medical Genetics, Ghent University, Ghent, Belgium.
authors.forename: Tom
authors.initials: T
authors.lastname: Van Maerken
mesh_terms: D053181:Caspase 8 / Q000235:genetics*; D018572:Disease-Free Survival; D005784:Gene Amplification; D015972:Gene Expression Regulation, Neoplastic; D060005:Genotyping Techniques; D006801:Humans; D007223:Infant; D000071447:N-Myc Proto-Oncogene Protein; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins; C505530:CASP8 protein, human; D053181:Caspase 8