<HashMap><database>EGA</database><scores/><additional><omics_type>Genomics</omics_type><dataset_type>HumanMethylation450k Bead Chip - Genome Studio</dataset_type><full_dataset_link>https://ega-archive.org/datasets/EGAD00010000377</full_dataset_link><sample_count>6</sample_count><description>EGA dataset EGAD00010000377</description><repository>EGA</repository><title>Title not provided</title><pubmed_abstract>Mutation is a fundamental process in tumorigenesis. However, the degree to which the rate of somatic mutation varies across the human genome and the mechanistic basis underlying this variation remain to be fully elucidated. Here, we performed a cross-cancer comparison of 402 whole genomes comprising a diverse set of childhood and adult tumors, including both solid and hematopoietic malignancies. Surprisingly, we found that the inactive X chromosome of many female cancer genomes accumulates on average twice and up to four times as many somatic mutations per megabase, as compared to the individual autosomes. Whole-genome sequencing of clonally expanded hematopoietic stem/progenitor cells (HSPCs) from healthy individuals and a premalignant myelodysplastic syndrome (MDS) sample revealed no X chromosome hypermutation. Our data suggest that hypermutation of the inactive X chromosome is an early and frequent feature of tumorigenesis resulting from DNA replication stress in aberrantly proliferating cells.</pubmed_abstract><pubmed_title>Hypermutation of the inactive X chromosome is a frequent event in cancer.</pubmed_title><pubmed_authors>Jäger Natalie N, Schlesner Matthias M, Jones David T W DT, Raffel Simon S, Mallm Jan-Philipp JP, Junge Kristin M KM, Weichenhan Dieter D, Bauer Tobias T, Ishaque Naveed N, Kool Marcel M, Northcott Paul A PA, Korshunov Andrey A, Drews Ruben M RM, Koster Jan J, Versteeg Rogier R, Richter Julia J, Hummel Michael M, Mack Stephen C SC, Taylor Michael D MD, Witt Hendrik H, Swartman Benedict B, Schulte-Bockholt Dietrich D, Sultan Marc M, Yaspo Marie-Laure ML, Lehrach Hans H, Hutter Barbara B, Brors Benedikt B, Wolf Stephan S, Plass Christoph C, Siebert Reiner R, Trumpp Andreas A, Rippe Karsten K, Lehmann Irina I, Lichter Peter P, Pfister Stefan M SM, Eils Roland R</pubmed_authors><name_synonyms>Clinical Study Case, True Case Status, Case., Packaging Case, Case Dosing Unit, case, CASE</name_synonyms><pubmed_title_synonyms>primary cancer, frequent, Malignant Neoplasm, Malignancy, Neoplasms, Benign Neoplasm, Benign Neoplasms, X Chromosomes, Cancers, X, Tumor, Malignant, malignant tumor, Chromosomes, Neoplasias, high frequency, MT, Benign, Chromosome, malignant neoplasm, Neoplasm, Malignancies, Neoplasia, Cancer, Tumors, Malignant Neoplasms.</pubmed_title_synonyms><description_synonyms>Sarcomas, DNA methylation maintenance, determination, DNA Methylations, MLYM, DNA methylation, Germinoblastoma, Germinoblastomas, Malignant, Germinoblastic Sarcoma, Reticulolymphosarcoma., Malignant Lymphomas, Malignant Lymphoma, Sarcoma, Reticulolymphosarcomas, lymphoma, Lymphoma, chemical analysis, Germinoblastic Sarcomas, assay, Germinoblastic, DNA, Lymphomas, Methylations, Methylation, lymphoid cancer</description_synonyms><pubmed_abstract_synonyms>Mds1-Evi1, IPP2A2, degree (angle), Dmel_CG31829, adult stage, X Chromosomes, Jbo, Tumor, dCul3, brl, Mutations, 5730420M11Rik, Mds1, Scanning Transmission Electron Microscopy, Autonomous Replication, primary stem, Fs(3)Hor, SF3b155, adult, average, DMcul-3, SET, DmelCG2684, Dysmyelopoietic Syndrome, Genomes, TAF-I, X, LIS1, NTef2, Autonomous, PAFAHA, LIS2, DmelCG4299, MDCR, IGAAD, set, high frequency, Human Genomes, DmelCG10574, malignant neoplasm, sample, lis2, Malignancies, mdcr, myelodysplastic syndrome, Tumors, phapii, l(2)06430, pafah1b1-b, anatomical protrusion, StF-IT-1, CUL-3, female, Expanded, gft/dCul-3, br34, Fs(3)Sz11, Electron Microscopy, Hematopoetic Myelodysplasia, Benign, 1270, Adults, PRPF10, l35Cd, HLA-DR-associated protein II, DmelCG42616, cul-3, DI-2, I-2Dm, susceptibility to, Cullin3, expanded, Ex, Benign Neoplasms, SAP155, CG4299, whole genome, Myelodysplastic, CG11861, platelet-activating factor acetylhydrolase IB subunit alpha, early, Malignant Neoplasms, I-2PP1, TAF-IBETA, Replications, Syndromes, Znfpr1b1, Chromosome, enlarged, primary axis, 14-3-3E, spine, Myelodysplasias, Horka, STEM, CG2684, l(2)ey, Fs(3)Horka, Autonomous Replications, TAF-Ibeta, DNA, i2pp2a, big, HEL2, Myelodysplasia, Neoplasms, BOPS, Benign Neoplasm, stalk, cul3, Malignant, Cullin 3, Chromosomes, PHAPII, l(2)br34, protrusion, Human, large, DmelCG4114, pafah, Core Genome, Dysmyelopoietic Syndromes, CG31829, Cell., DmF2, DNA Replications, lod, CUL3, Hematopoetic Myelodysplasias, Malignancy, guftagu, Accessory Genome, ipp2a2, 2pp2a, Evi1, D630039M04Rik, CG10574, culm, Evi-1, Myelodysplastic Syndromes, Neoplasias, 2PP2A, taf-ibeta, great, Syndrome, dSET, dSet, gft, Cul3, Cancer, Myelodysplastic Syndrome, Malignant Neoplasm, female human body, axis, igaad, CG4114, KIAA1546, Scanning Transmission, Pangenome, Cell, MDS, Mds, Hematopoetic, group, PRP10, MT, Human Genome, I-2PP2A, Dm I-2, KCIP-1, I2PP2A, Neoplasm, Hsh155, Replication, mds, primary cancer, frequent, ensemble, BG:DS07851.2, arc degree, Cancers, dCul-3, PAFAH, Lds, malignant tumor, sample population, l(2)01270, dSET/TAF-Ibeta, CG42616, 2610030F17Rik, Pan-genome, Dmel_CG11861, l(2)35Cd, Prdm3, AA407739, Neoplasia, Females, Dysmyelopoietic</pubmed_abstract_synonyms></additional><is_claimable>false</is_claimable><name>MMML_2012_11_06_Methylation450k_case - samples</name><description>DNA methylation analysis of 6 primary lymphoma samples</description><dates><updated>2017-07-26 15:39:24</updated></dates><accession>EGAD00010000377</accession><cross_references><TAXONOMY>9606</TAXONOMY><pubmed>24139898</pubmed><EGA>EGAC00001000010</EGA><EGA>EGAS00001000394</EGA></cross_references></HashMap>