{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Other"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001005665"],"host":["EGA"],"description":["EGA study EGAS00001005665"],"dataset_title":["WES data from 5 DGCR8 schwannomas"],"repository":["EGA"],"category":["restricted"],"name_synonyms":["CYH1, pasha, Vo59c07, GRP1/cytohesin 1, schwannomatosis, N41, Step, CG11628, PTPSTEP, neurinoma, dmDGCR8, l(2)SH2 0323, stepk, neurilemmomatosis congenital cutaneous., Striatum-enriched protein-tyrosine phosphatase, DGCR8, D16Wis2, Gy1, DmelCG11628, CG1800, Neurilemmomatosis, CG11633, cytohesin/GRP1, neurilemmomatosis, congenital cutaneous, D16H22S788E, Neural-specific protein-tyrosine phosphatase, congenital cutaneous neurilemmomatosis, DmelCG1800, STEP, C22orf12, DGCRK6, l(2)k08110, GRP1, NEC, Pasha, Grp1, 3.1.3.48, NOS, Schwannomatosis 1, D16H22S1742E, cg1800, l(2)SH0323, PASHA, GPH"],"description_synonyms":["MGC130048, type 2, acoustic neurinoma bilateral, SGCG_HUMAN, P62, Neoplasms, neurinoma, Benign Neoplasm, A4, Progress Reports, sci, Tumor, neurofibromatosis, Malignant, TYPE, Thyroid, DAGA4, congenital cutaneous, DmelCG3424, Investigative, BANF, DmelCG1800, Summary Report, 35DAG, neurofibromatosis type II, HOW, How, MAM, gamma-SG, Thyroid Glands, Schwannomatosis, SCG3, Summary Reports, anon-WO0118547.370, acoustic neurinoma, l(3)j5D5, 24B, central type, gamma sarcoglycan, pasha, Glands, Neurilemmomas, l(3)s2612, Thyroids, Progress Report, N41, Malignancy, stru, l(3)S053606, bilateral, CG10293, neurilemmomatosis congenital cutaneous, Gy1, Neoplasias, Progress, l(3)j5B5, neurilemmomatosis, Field Reports, Clients, ACN, NEC, Pasha, DmelCG10293, gamma-sarcoglycan, s, Malignancies, Schwannomatosis 1, Investigative Reports, Plexiform Schwannomatoses, D16H22S1742E, cg1800, SCHW, PASHA, Cancer, Tumors, Plexiform Schwannomatosis, 0904/17, Vo59c07, THYROID, Malignant Neoplasm, 35 kDa dystrophin-associated glycoprotein, clone 2.39, Schwannoma, SG-gamma, CG3424, dmDGCR8, Neurilemoma, DGCR8, qkr, l(3)S090417, Client, D16Wis2, SGCG, CG1800, LGMD2C, Neurilemomas, neurofibromatosis central type, Neurinoma, Benign, glandula thyroidea, acoustic Schwannomas, Investigative Report, Gland, Schwannomas, SZ1, acoustic schwannomas bilateral, KH93F, Research Reports, Neoplasm, NOS, sarcoglycan, merlin, thyroid, who, schwannomatosis, DMDA1, Plexiform, NF2., Field, Benign Neoplasms, patient, Neurinomas, Who/How, Cancers, gamma (35kDa dystrophin-associated glycoprotein), Neurilemmomatosis, Malignant Neoplasms, loss of, type II, Report, D16H22S788E, pth, neurolemmoma, DMDA, congenital cutaneous neurilemmomatosis, Reports, Patient, C22orf12, 35kD dystrophin-associated glycoprotein, DGCRK6, Manuscripts, SCARMD2, qkr[93F], anon-EST:Liang-2.39, Summary, SCH, anon-WO0118547.271, Neoplasia, Field Report"],"additional_accession":[]},"is_claimable":false,"name":"DGCR8 and the six hit, three-step model of schwannomatosis","description":"In our manuscript, we report the second case of a patient with peripheral schwannomatosis and thyroid alterations cause by the germline pathogenic variant E518K in DGCR8 and analyzed a total of 13 schwannomas from patients in the two kindreds identified up to date. Our analyses revealed how path to tumorigenesis prompted by DGCR8 requires the loss of the wild type allele of Chrm22q and in more than two thirds of the tumors a complete inactivation of NF2.","dates":{"updated":"2021-11-10 10:03:14"},"accession":"EGAS00001005665","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001008200","EGAC00001002351"]}}