EGAGenomicsIllumina HiSeq 2500;https://ega-archive.org/datasets/EGAD0000100104016EGA dataset EGAD00001001040EGANeurofibromatosis 1 is a hereditary syndrome characterized by the development of numerous benign neurofibromas, a small subset of which progress to malignant peripheral nerve sheath tumors (MPNSTs). To better understand the genetic basis for MPNSTs, we performed genome-wide or targeted sequencing on 50 cases. Sixteen MPNSTs but none of the neurofibromas tested were found to have somatic mutations in SUZ12, implicating it as having a central role in malignant transformation.Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors.Zhang Ming M, Wang Yuxuan Y, Jones Sian S, Sausen Mark M, McMahon Kevin K, Sharma Rajni R, Wang Qing Q, Belzberg Allan J AJ, Chaichana Kaisorn K, Gallia Gary L GL, Gokaslan Ziya L ZL, Riggins Greg J GJ, Wolinksy Jean-Paul JP, Wood Laura D LD, Montgomery Elizabeth A EA, Hruban Ralph H RH, Kinzler Kenneth W KW, Papadopoulos Nickolas N, Vogelstein Bert B, Bettegowda Chetan CVasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASPExomes, whole exome, study., whole genome, Data Set, GenomesSarcomas, Neurogenic Sarcoma, Neurogenic Sarcomas, chet9, AI195385, Malignant Neurilemmoma, Malignant Schwannomas, MPNST, Schwannoma, Malignant Neurilemmomas, 2610028O16Rik, AW536442, Neurilemoma, Neurilemmosarcoma, Malignant Neurilemoma, Xsuz12, Malignant Schwannoma, neurofibrosarcoma, Neurogenic, Neurilemmoma, Malignant, D11Ertd530e, jjaz1, Neurilemmosarcomas, Mutations, Malignant Neurilemomas, Neurofibrosarcomas, Sarcoma, AU016842, JJAZ1, mKIAA0160, Neurogenic., CHET9, Malignant Peripheral Nerve Sheath Tumor, Peripheral Nerve Sheath Tumors, Malignant Peripheral Nerve Sheath TumorsRecklinghausens Disease of Nerve, cluster, Neurofibromatosis Type 1, Neurofibromatosis (morphologic abnormality), neurofibromatosis type 4, Peripheral Neurofibromatoses, Molluscum Fibrosum, syndrome associated with disease or disorder, single-organism developmental process, [M]Neurofibroma NOS, postnatal development, Nerve, growth and development, broad, neurofibromatosis, Neurogenic, Malignant, syndromic disease or disorder, [M]Neurofibromas, Recklinghausen Disease, Recklinghausen Disease of Nerve, Mutations, Type I Neurofibromatoses, AU016842, "syndrome, reduced, Roles, type I, "syndrome" EXACT [MTH:NOCODE], symptom clusters, Concepts, symptom, Peripheral, Malignant Peripheral Nerve Sheath Tumor, CHET9, Neurofibromatosis, tiny, Type I, Role Concepts., Nerve sheath tumor, Acoustic neurofibromatosis, peripheral type, Sarcomas, chet9, Neurofibromatosis 1, Genomes, Malignant Schwannomas, Nerve sheath tumor (morphologic abnormality), von Recklinghausens Disease, hypoplasia, type 1 neurofibromatosis, syndrome, Neurofibroma (morphologic abnormality), Malignant Neurilemoma, neurofibrosarcoma, syndromes, Neurofibromas, Symptom, genetic, Sarcoma, NOS" EXACT [SNOMEDCT_2005_07_31:64572001], no ICD-O subtype (morphologic abnormality), syndromic disease, Syndrome, Symptom Clusters, Neurofibromatosis Type I, Pulmonic Stenosis with Cafe au Lait Spots, NF1, von Reklinghausen disease, constitutitional genetic, Peripheral Nerve Sheath Tumors, small, Neurogenic Sarcomas, Malignant Neurilemmoma, wide/broad, Watson, Neurofibroma NOS (morphologic abnormality), Peripheral Neurofibromatosis, Schwannoma, Malignant Neurilemmomas, familial, Neurilemoma, Neurilemmosarcoma, Xsuz12, Clusters, Neurilemmoma, central Neurofibromatosis, D11Ertd530e, Neurofibromatosis syndrome (disorder), Neurilemmosarcomas, Concept, Neurofibromatosis I, Malignant Neurilemomas, neurofibromatosis type 1 microdeletion syndrome, development, Cafe-au-Lait Spots with Pulmonic Stenosis, Neurofibrosarcomas, Watson Syndrome, type IV neurofibromatosis of riccardi, symptom cluster, Role Concept, Neurofibromatoses, Symptom Cluster, Recklinghausen's disease, Pulmonic Stenosis with Cafe-au-Lait Spots, Role, mKIAA0160, von Recklinghausen's Disease, NOS, Nerve sheath tumour, Peripheral Type, Recklinghausen's Disease of Nerve, neurofibromatosis type IV, Neurogenic Sarcoma, Neurofibroma (disorder), Type 1 Neurofibromatosis, AI195385, Neurofibroma (WHO Grade I), underdeveloped, peripheral Neurofibromatosis, MPNST, 2610028O16Rik, postnatal growth, AW536442, Von Recklinghausen disease, Malignant Schwannoma, whole genome, clusters, Type 1, NF1 (Neurofibromatosis 1), jjaz1, Cafe au Lait Spots with Pulmonic Stenosis, wide, no ICD-O subtype, Syndromes, Cluster, Recklinghausen's neurofibromatosis, NF 1, JJAZ1, [M]Neurofibroma NOS (morphologic abnormality), inherited genetic, von Recklinghausen Disease, neurofibromatosis type 1, neurofibromatosis type 2, Malignant Peripheral Nerve Sheath Tumors, hereditary, growth, Neurofibromafalseena-DATASET-LUDJHU-20-10-2014-15:22:02:414-222 - samplesThis is the complete dataset (exome and genome) for the EGAS00001000974 study.2017-07-26 15:39:25EGAD00001001040960625305755EGAC00001000253EGAS00001000974