EGAGenomicsCancer Genomicshttps://ega-archive.org/studies/EGAS00001002309EGAEGA study EGAS00001002309Whole genome sequencing of retinoblastoma reveals the diversity of rearrangements disrupting RB1 and uncovers a treatment related mutational signatureNext gen seq of eye cancers (2019-08-14)restrictedEGAEye Cancers, eyeball of camera-type eye tumor, neoplasm of the eye, Cancer of the Eye, Eye Neoplasms, Neoplasms, Eye, Cancers, neoplasm of eye, Cancer of Eye, tumor of eye, eye neoplasm, ocular neoplasm, EYE NEOPL, eye neoplasm (disease), Eye Cancer, tumor of eyeball of camera-type eye, Neoplasm, tumor of the eye, ocular tumor., eye tumor, neoplasm of eyeball of camera-type eye, eyeball of camera-type eye neoplasm, NEOPL EYE, CancerRB1, Extracellular Matrix Protein, Networks, Materials, Kinship, insensitive, HSN1E, neoplasia, Sporadic Retinoblastomas, RBF, Tumor, L-Leucine, Mutations, RBR, L-Isomer Leucine, "retinoblastoma" EXACT [CSP2005:2018-3452], RB, rb, Mother Cells, Impacts, Life Cycle, 3, RETINOBLASTOMA PROTEIN, rbf, Environmental Impacts, Leucin, Family Life Cycle, treatment, 8-[(E)-2-(3-chlorophenyl)ethenyl]-1, Kinship Network, Second-Site Suppressor Genes, L, pp110, cell process disease, tumor disease, neoplasm (disease), Rb, Tissue, Childhood Cancer, Oncogeneses, Familial, genetic, Environmental Impact, 6-dione, malignant neoplasm, Retinal Glioblastoma, disease management, Therapies, Malignancies, CG7413, 7-dihydro-1H-purine-2, tumor, Family Life Cycles, CXXC finger protein 9, 7-trimethyl-3, somatic mutation, Tumors, Diagnostic Findings, Therapy, SIGNS SYMPTOMS, Opal Suppressor Gene, retinoblastoma-related 1, rbf1, DESC, familial, "Retinoblastoma NOS (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189935007], Frameshift, retinoblastoma, neoplastic disease, RETINOBLASTOMA 1, hereditary retinoblastoma, tumours, Ochre, Benign, Colony-Forming Unit, Stem Cell, Retinal Glioblastomas, ATRBR1, Genetic Materials, Second-Site Suppressor Gene, simple tissue, Gliomas, Filiation, Genetic Material, Amber Suppressor Genes, Retinal, Mother Cell, pRb, ADCADN, Familial Retinoblastoma, Retinoblastoma Eye Cancer, Retinal Gliomas, Glioblastoma, DmelCG7413, Drives, resistant, UNQ203/PRO229, Neuroblastomas, Stem, DNA (cytosine-5-)-methyltransferase 1, "Retinoblastoma (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:19906005], Benign Neoplasms, Leuzin, Colony Forming Units, INSDC_feature:gene, whole genome, Nonsense Mutation Suppressor, Treatments, Hereditary Retinoblastoma, Malignant Neoplasms, Life Cycles, p105-Rb, Matrix Proteins, familial retinoblastoma, Oncogenesis, Material, Hereditary, Cells, Cistron, Glioma, inherited genetic, Hleu, EG:34F3.3, other neoplasm, Clinical Finding, Matrix Protein, Rbf1, RBF1, Proteoglycan, Frameshift Suppressor, (RS)-Leucine, Sporadic, Amber, Tumorigeneses, Family Member, Retinal Neuroblastoma, FBF, Neoplasms, Colony-Forming Units, Benign Neoplasm, Second Site Suppressor Genes, Progenitor Cell, L Isomer, Gene, Network, Malignant, autosomal dominant, dRBF, Symptoms and Signs, NEOPL, Aim, eye cancer, AIM, Eye Cancer, "neuroblastoma of Retina" EXACT [NCI2004_11_17:C6956], OSRC, Gene Products, Proteoglycan Type H, Finding, Retinal Glioma, Second-Site Suppressor, neoplasm, Progenitor, Eye Cancers, study, DNMT1, Retinoblastoma Eye, Sporadic Retinoblastoma, "RB - Retinoblastoma" EXACT [SNOMEDCT_2005_07_31:134191003], Genetic, Malignancy, DNMT1_HUMAN, Retinoblastoma Eye Cancers, Research, Retinal Neuroblastomas, Mother, Treatments., tumour, (+-)-Leucine, Suppressor Gene, Ochre Suppressor Gene, Neoplasias, API6, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS), Hereditary Retinoblastomas, Amber Suppressor Gene, Second-Site, Extracellular, Kinship Networks, "Retinoblastomas (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:189934006], constitutitional genetic, Family, Neoplastic Growth, Second Site Suppressor, Cancer, DNA MTase HsaI, DNA (cytosine-5)-methyltransferase 1, Colony Forming Unit, Frameshift Suppressor Gene, Frameshift Suppressor Genes, Malignant Neoplasm, Family Research, Ochre Suppressor, Progenitor Cells, Proteins, DNMT, Amber Suppressor, MCMT, Tumorigenesis, L-Isomer, Cistrons, Cell, Ochre Suppressor Genes, Impact, Opal Suppressor, Family Members, Environmental, Signs and Symptoms, neoplastic growth, MT, DNA methyltransferase HsaI, Protein, "RB" EXACT [NCI2004_11_17:C7541], Neoplasm, "Retinoblastoma (disorder)" EXACT [SNOMEDCT_2005_07_31:370967009], PPP1R130, sequence, Retinoblastomas, Retinoblastoma, CXXC9, Familial Retinoblastomas, primary cancer, Genes, Opal, CT-2, Neuroblastoma, Leucine, Nonsense Mutation Suppressor Genes, Carcinogeneses, Glioblastomas, Rb-1, CSC, Cancers, Opal Suppressor Genes, Suppressor, disease of cellular proliferation, malignant tumor, CXXC-type zinc finger protein 9, primary structure of sequence macromolecule, Rb1, Protein Gene Products, extracellular, Gene Proteins, Extracellular Matrix, Therapeutic, Families, Suppressor Genes, DL-Leucine, RETINOBLASTOMA-RELATED PROTEIN 1, RETINOBLASTOMA-RELATED, Environments, 2-amino-4-methylpentanoic acid, Treatment, RbF, trilateral, hereditary, Relatives, Neoplasia, NEOPLASMS BENIGN, CLEC2C, Leu, m.HsaIfalseNext gen seq of eye cancersRetinoblastoma (RB), the commonest eye cancer in children was the first cancer for which a genetic cause was identified: the Rb1 gene is a tumour suppressor gene that is mutated in RB. The Rb1 gene defect alone does not predict the clinical outcome. We propose to study other possible mechanisms: 1. Stepwise further mutations occur in RB, increasing its carcinogenesis. We will sequence the whole genome in RB tissue, and relate the different genes expressed to the treatments used. 2. Extracellular matric proteins contribute to a tumour permissive environment for RB to continue to grow. This includes Samll Leucine Rich Proteoglycans (SLRP), a family of 15 secreted extracellular matrix proteins involved in eye development. 3. Cancer stem cells (CSC), a subpopulation of treatment resistant cells, drive RB tumours, and whether these stem cells can be manipulated for new therapies. The aim of this study is to assist finding targeted diagnostic techniques and treatments for RB.2021-03-12 15:25:36EGAS000010023099606EGAD00001006431EGAD00001005251EGAC00001000205