0000000001175529

AUTHOR

Simona Coco

0000-0002-5296-4325

showing 2 related works from this author

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

2014

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 assoc…

OncologyGenotyping TechniquesMedizinlcsh:MedicineGenome-wide association studyPROGRESSIONSUSCEPTIBILITYBioinformaticsNeuroblastomaCHEMOSENSITIVITYMedicine and Health SciencesMissense mutationlcsh:ScienceOncogene ProteinsCaspase 8N-Myc Proto-Oncogene ProteinMultidisciplinaryCELL-LINENuclear ProteinsCANCERAPOPTOSISGENOTYPEGene Expression Regulation NeoplasticResearch Articlemedicine.medical_specialtySingle-nucleotide polymorphismBiologyN-Myc Proto-Oncogene ProteinPolymorphism Single NucleotideDisease-Free SurvivalMDM2 SNP309Molecular GeneticsNeuroblastomaInternal medicineCASPASE-8medicineGeneticsCancer GeneticsSNPHumansneoplasmsNeoplasm StagingClinical GeneticsP53lcsh:RGene AmplificationCancerInfantBiology and Life Sciencesmedicine.diseasePediatric cancerGeriatricsGenetics of Diseaselcsh:Q
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Lack of association betweenMDM2promoter SNP309 and clinical outcome in patients with neuroblastoma

2014

While a polymorphism located within the promoter region of the MDM2 proto-oncogene, SNP309 (T > G), has previously been associated with increased risk and aggressiveness of neuroblastoma and other tumor entities, a protective effect has also been reported in certain other cancers. In this study, we evaluated the association of MDM2 SNP309 with outcome in 496 patients with neuroblastoma and its effect on MDM2 expression. No significant difference in overall or event-free survival was observed among patients with neuroblastoma with or without MDM2 SNP309. The presence of SNP309 does not affect MDM2 expression in neuroblastoma. Pediatr Blood Cancer 2014; 61:1867–1870. © 2014 Wiley Periodicals,…

biologybusiness.industryMdm2 snp309PromoterSingle-nucleotide polymorphismHematologymedicine.diseaseenzymes and coenzymes (carbohydrates)OncologyNeuroblastomaPediatrics Perinatology and Child HealthGenotypebiology.proteinCancer researchMedicineMdm2In patientbusinessneoplasmsGenotypingPediatric Blood & Cancer
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