{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Whole Genome Sequencing"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001000213"],"host":["EGA"],"description":["EGA study EGAS00001000213"],"dataset_title":["PCGP Germline Study Whole Genome Sequencing","DATA FILES FOR NBL","PCGP Germline Study Whole Exome Sequencing","Additional Neuroblastoma whole genome sequencing data","Additional Neuroblastoma whole genome sequencing data (Part 2)"],"category":["restricted"],"repository":["EGA"],"description_synonyms":["Immunogold-Silver, Formol, Antemortem Diagnosis, telomeric region, telomere, neuroblastoma, DNS, (Deoxyribonucleotide)n, Neoplasms, Central neuroblastoma, Benign Neoplasm, number, Parturitions, Polymerase Chain Reactions, broad, Tumor, Technic, Inverse, Malignant, Diagnosis, presence, Deoxyribonucleic acids, Techniques, Inverse PCR, Births, Deoxyribonucleic Acid, Immunogold-Silver Techniques, Methanal, Parafilm, Immunogold-Silver Technique, Mass, symptoms, Screening, nuclear chromosome, In Situ, Polymerase Chain, Antemortem, Technique, adult, Immunogold Silver Technics, in situ hybridization, Group, thymus nucleic acid, Complete, Whole Genome, telomeres, Malignancy, Birth, Complete Genome Sequencing, Formaldehyd, Tissue, Oxomethane, Inverse Polymerase Chain Reaction, Double Stranded, Hybridization in Situ, Deoxyribonucleic acid, Diagnoses and Examinations, Age Group, neuroblastoma (morphologic abnormality), Sequencing, ISH, [M]Neuroblastoma NOS (morphologic abnormality), genetic, Neoplasias, Immunogold-Silver Technic, Formalin, Clients, Reaction, [M]Neuroblastoma NOS, Whole, Immunolabeling Technique, In Situ Hybridizations, Double-Stranded DNA, Malignancies, NB - Neuroblastoma, (Deoxyribonucleotide)m, Anchored PCR, deoxyribonucleic acids, DNAn, INSDC_feature:telomere, Childbirths, constitutitional genetic, Immunogold Technics, Diagnose, Cancer, Tumors, Antemortem Diagnoses, screening, Neuroblastoma (Schwannian Stroma-Poor), Anchored Polymerase Chain Reaction, findings, wide/broad, Malignant Neoplasm, Infants, Immunogold Technic, Hybridization, RnBP, DNAn+1, familial, Genome Sequencing, Immunogold Technique, GlcNAc 2-epimerase, Immunohistocytochemistry, Double-Stranded, Hybridizations, telomeric sequence, Client, Sympathicoblastoma, Examination and Diagnoses, Diagnoses, (Deoxyribonucleotide)n+m, Immunogold, Immunogold Techniques, count in organism, N-acetyl-D-glucosamine 2-epimerase, Complete Genome, Benign, Postmortem, Screenings, Immunolabeling Technic, Mass Screenings, RENBP, Examinations and Diagnoses, Immunolabeling Technics, Neoplasm, Telomeres, ISH., NOS, FORMALIN, NB, simple tissue, Technics, ds-DNA, Postmortem Diagnosis, desoxyribose nucleic acid, Adults, fixed, PCR, Immunolabeling, Diagnoses and Examination, Anchored, Postmortem Diagnoses, Immunocytochemistry, Reactions, Nested, Neuroblastomas, Nested Polymerase Chain Reaction, Neuroblastoma, signs, Benign Neoplasms, Immunogold Silver Techniques, Cancers, Children, Methylene oxide, Age, polymerase chain reaction, neuroblastoma NOS (morphologic abnormality), AGE, Malignant Neoplasms, wide, metastatic, (Neuroblastoma NOS) or (sympathicoblastoma), Patient, Oxomethylene, ds DNA, telomeric DNA, Desoxyribonukleinsaeure, Immunogold-Silver Technics, renin-binding protein, Immunolabeling Techniques, Nested PCR, inherited genetic, DNA, other neoplasm, hereditary, Neoplasia, Childbirth"],"name_synonyms":["genetic, [M]Neuroblastoma NOS (morphologic abnormality), Mutations, Neuroblastoma (Schwannian Stroma-Poor), neuroblastoma, Patient, (Neuroblastoma NOS) or (sympathicoblastoma), Neuroblastomas, Neuroblastoma, Associations, Clients, [M]Neuroblastoma NOS, neuroblastoma NOS (morphologic abnormality)., Central neuroblastoma, familial, NOS, inherited genetic, NB, NB - Neuroblastoma, constitutitional genetic, hereditary, Client, neuroblastoma (morphologic abnormality), Sympathicoblastoma"],"additional_accession":[]},"is_claimable":false,"name":"Association of Age at Diagnosis and Genetic Mutations in Patients with Neuroblastoma","description":"Neuroblastoma is diagnosed over a wide age range from birth through young adulthood, and older age at diagnosis is associated with a decline in survivability. We performed whole genome sequencing of DNA from diagnostic tumors and their matched germlines from 40 patients with metastatic neuroblastoma obtained between 1987 and 2009.  To identify genetic lesions that are associated with age at diagnosis in patients with metastatic neuroblastoma. Age groups at diagnosis included infants (0-18 months), children (18 months-12 years), and adolescents and young adults (>12 years). To confirm the findings from this discovery cohort, validation testing using tumors from an additional 64 patients obtained between 1985 and 2009 was also performed.  Formalin-fixed paraffin-embedded tumor tissue was used for immunohistochemistry and fluorescent in situ hybridization.  Telomere lengths were analyzed using the whole genome sequencing data, quantitative polymerase chain reaction and fluorescent in situ hybridization","dates":{"updated":"2020-08-14 18:33:27"},"accession":"EGAS00001000213","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001000135","EGAD00001006196","EGAD00001001432","EGAD00001006344","EGAD00001001433","EGAC00001000044"]}}