EGAGenomicsIllumina HiSeq 2000;https://ega-archive.org/datasets/EGAD0000100100312EGA dataset EGAD00001001003EGAWilms tumour is a childhood kidney cancer. Here we identify inactivating CTR9 mutations in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. By contrast, no similar mutations are present in 1,000 population controls (P<0.0001). Each mutation segregates with Wilms tumour in the family and a second mutational event is present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. These data establish CTR9 as a Wilms tumour predisposition gene and suggest it acts as a tumour suppressor gene.Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour.Hanks Sandra S, Perdeaux Elizabeth R ER, Seal Sheila S, Ruark Elise E, Mahamdallie Shazia S SS, Murray Anne A, Ramsay Emma E, Del Vecchio Duarte Silvana S, Zachariou Anna A, de Souza Bianca B, Warren-Perry Margaret M, Elliott Anna A, Davidson Alan A, Price Helen H, Stiller Charles C, Pritchard-Jones Kathy K, Rahman Nazneen NVasp, VASP, DmelCG15112, ENHANCER OF ATNSI ACTIVITY, Gr-1., D8Ertd238e, Gr1, Data Set, MENA, NDPP1, HEL-75, l(2)02029, Enb, enb, ENA, Ena, ICR, AI325518, CG15112, ENA/VASPComplete Exome Sequencings, DNS, embryonal nephroma, (Deoxyribonucleotide)n, Complete Exome, DNAn+1, Wilms Tumor 1, Exome, Wilms tumor (nephroblastoma), Wilms tumor, Double-Stranded, Tumor, Nephroblastoma (disorder), Wilms, Wilm Tumor, Bilateral Wilms., Cell, Deoxyribonucleic acids, (Deoxyribonucleotide)n+m, renal Wilms tumor, Exome Sequencing, childhood renal Wilms tumour, Deoxyribonucleic Acid, adult renal Wilms' tumour, kidney Wilms tumour, Wilms tumour (nephroblastoma), Whole Transcriptome, Transcriptome Sequencing, Lymphoid Cell, Nephroblastomas, ds-DNA, Wilms', desoxyribose nucleic acid, Nephroblastoma NOS, Wilm's Tumor, Lymphoid Cells, Wilms' Tumor, nonanaplastic renal Wilm's tumor, WES, Complete Transcriptome, thymus nucleic acid, nonanaplastic renal Wilm's tumour, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Bilateral, Complete Exome Sequencing, Whole Transcriptome Sequencing, Wilms tumour, nephroblastoma, Double Stranded, childhood renal Wilms' cancer, Deoxyribonucleic acid, Sequencing, childhood renal Wilms tumor, Whole Exome, kidney Wilms tumor, Wilms' tumor, Whole, Cells, ds DNA, Whole Exome Sequencing, Nephroblastoma (morphologic abnormality), Desoxyribonukleinsaeure, Bilateral Wilms Tumor, Lymphoid, Double-Stranded DNA, (Deoxyribonucleotide)m, DNA, deoxyribonucleic acids, DNAn, Transcriptome Sequencings, Wilms Tumor, Nephroblastoma, adult nephroblastoma, LymphocyteMutations, AA409336, Materials, Genetic, Paf1p complex, Material, TSBP, Tsbp, p150TSP, p150, Tsp, Genetic Materials, Sh2bp1, Cistron, Gene, INSDC_feature:gene, SH2BP1, Paf1 complex, Cistrons, mKIAA0155, Genetic Material, CDP1, other neoplasm.Networks, Regulations, Frameshift Suppressor, whole exome, Amber, Materials, Amber Suppressor., Family Member, Kinship, Tsbp, neoplasia, Neoplasms, Stem Cells, Second Site Suppressor Genes, Gene, Network, Tumor, kidney cancer of childhood, CDP1, Social Controls, NEOPL, childhood malignant renal tumor, Mutations, pediatric kidney cancer, School-Age, TSBP, p150, AA959943, Life Cycle, ES cell, Second-Site Suppressor, neoplasm, Sanger sequencing, Formal Social Controls, Family Life Cycle, School-Age Populations, Kinship Network, Genetic, Second-Site Suppressor Genes, Research, p150TSP, cell process disease, tumor disease, Embryonic Stem Cell, neoplasm (disease), childhood malignant kidney neoplasm, embryonic organogenesis, Sh2bp1, ESC, tumour, Population, childhood malignant kidney tumor, Maintenances, Acts, dye terminator sequencing, Suppressor Gene, Ochre Suppressor Gene, Social, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS), DNA Dependent RNA Polymerase II, Amber Suppressor Gene, Second-Site, s, Kinship Networks, tumor, School Age Population, Family Life Cycles, associated, Family, Neoplastic Growth, Second Site Suppressor, Tumors, Acta-2, Opal Suppressor Gene, AA409336, Frameshift Suppressor Gene, Frameshift Suppressor Genes, Family Research, Formal Social Control, Ochre Suppressor, Actsk-1, Frameshift, neoplastic disease, Amber Suppressor, mKIAA0155, Cistrons, tumours, Cell, Ochre, Ochre Suppressor Genes, Family Members, Opal Suppressor, neoplastic growth, childhood malignant renal neoplasm, Stem Cell, Social Control, School Age, Tsp, Genetic Materials, Second-Site Suppressor Gene, SH2BP1, Filiation, Genetic Material, Amber Suppressor Genes, Embryonic, Populations, Genes, Opal, RNA Pol II, Nonsense Mutation Suppressor Genes, Exomes, Control, INSDC_feature:gene, Nonsense Mutation Suppressor, Controls, Opal Suppressor Genes, Suppressor, disease of cellular proliferation, School Age Populations, Life Cycles, Material, Families, Suppressor Genes, Cells, RNA Polymerase B, Cistron, regulation, School-Age Population, DNA-Dependent RNA Polymerase II, other neoplasm, Embryonic Stem, Relatives, Regulation, NEOPLASMS BENIGN, Neoplasia, childhood kidney cancerfalseena-DATASET-ICR-GSR-09-09-2014-10:48:45:936-187 - samplesExome sequencing of lymphocyte DNA from 12 affected individuals from six unrelated, non-syndromic Wilms tumor families.2017-07-26 15:39:25EGAD00001001003960625099282EGAC00001000235EGAS00001000904