{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"contact_person":["Sian Jones"],"full_dataset_link":["https://ega-archive.org/dacs/EGAC00001000234"],"host":["EGA"],"description":["EGA DAC EGAC00001000234"],"repository":["EGA"],"email":["sjones@pgdx.com"],"pubmed_abstract":["Malignant mixed Müllerian tumours, also known as carcinosarcomas, are rare tumours of gynaecological origin. Here we perform whole-exome analyses of 22 tumours using massively parallel sequencing to determine the mutational landscape of this tumour type. On average, we identify 43 mutations per tumour, excluding four cases with a mutator phenotype that harboured inactivating mutations in mismatch repair genes. In addition to mutations in TP53 and KRAS, we identify genetic alterations in chromatin remodelling genes, ARID1A and ARID1B, in histone methyltransferase MLL3, in histone deacetylase modifier SPOP and in chromatin assembly factor BAZ1A, in nearly two thirds of cases. Alterations in genes with potential clinical utility are observed in more than three quarters of the cases and included members of the PI3-kinase and homologous DNA repair pathways. These findings highlight the importance of the dysregulation of chromatin remodelling in carcinosarcoma tumorigenesis and suggest new avenues for personalized therapy."],"pubmed_title":["Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes."],"pubmed_authors":["Jones Siân S, Stransky Nicolas N, McCord Christine L CL, Cerami Ethan E, Lagowski James J, Kelly Devon D, Angiuoli Samuel V SV, Sausen Mark M, Kann Lisa L, Shukla Manish M, Makar Rosemary R, Wood Laura D LD, Diaz Luis A LA, Lengauer Christoph C, Velculescu Victor E VE"],"name_synonyms":["mixed Mullerian tumor, mixed tumor, mixed Mullerian tumour, Carcinosarcomas., Mullerian"],"pubmed_title_synonyms":["carcinosarcoma, mixed tumor, Materials, frequent, Genetic, mixed mesodermal (mullerian) tumor, malignant mixed Mullerian tumor, malignant, mesodermal mixed tumor (morphologic abnormality), mesodermal mixed tumor, Gene, mullerian mixed tumor (morphologic abnormality), Cistrons, mullerian mixed tumor, ATP-dependent chromatin remodelling, Mutations, MMMT, high frequency, mixed Mullerian tumor, Material, Mullerian, Genetic Materials, Cistron, Carcinosarcomas, Genetic Material., malignant mixed mesodermal (mullerian) tumor, ATP-dependent chromatin remodeling"],"pubmed_abstract_synonyms":["MGC130048, l(3)j4C7, Class I Histone Deacetylases, 0869/09, Wap3, mixed tumor, Materials, Ardi1b, Nucleotide Sequencing, AI836955, l(3)2004, Massively-Parallel, Deacetylase, Wfdc14, Smarcf1, A4, ATRPD3A, mixed Mullerian tumour, ATHD1, DNA replication-independent chromatin organization, B930060C03, Repair, RPD3A, Tp53, P270, HALR, Dmel_CG9924, Chromatin Assembly, ELD|OSA1, Mutations, BAF250a, Histone H2b, Histone H2a, ras, High-Throughput RNA Sequencing, bbl, HDA1, BTBD32, symptoms, B230217J03Rik, Kinase, C-K-RAS, k-ras, ATP-dependent chromatin remodeling, Deep Sequencing, rask2, average, mei-P19, treatment, gamma sarcoglycan, DNA replication-independent nuclesome assembly, malignant mixed Mullerian tumor, BCC7, Illumina Sequencing, D-SPOP, Chromatin Remodeling, Acf1, ACF1, genetic, Rdx, High Throughput RNA Sequencing, Deacetylase Complexes, cbp146, Histone H5, Therapies, gamma-sarcoglycan, Histone H4, Histone H7, ATP Phosphotransferases, ELD, Histone H1, Mismatch, ATP, Histone H3, High-Throughput RNA, Therapy, hOSA1, screening, DAN15, l(3)88Aa, Ki-ras, SG-gamma, familial, DmelCG12537, High-Throughput DNA Sequencing, F20D10.250, Deacetylases, 8030481M12, Ion Torrent Sequencing, DNA replication-independent nucleosome organisation, Massively-Parallel Sequencing, F20D10_250, p21, Next-Generation, l(3)A6, Genetic Materials, sarcoglycan, B120, bfy, Ion Torrent, ATHDA19, Genetic Material, chromatin assembly, long patch mismatch repair system, Transphosphorylases, mismatch repair, mixed mesodermal (mullerian) tumor, Remodeling, OSA2, Mismatch Repair, Osa1, OSA1, Exomes, signs, mesodermal mixed tumor, SPOP, gamma (35kDa dystrophin-associated glycoprotein), Treatments, High Throughput Sequencing, Phenotypes, BEST:GM07940, DNA replication-independent chromatin assembly, DMDA, RASK2, Material, 35kD dystrophin-associated glycoprotein, WALp1, Complexes, Skalp, P53, p44, bhy, Cistron, inherited genetic, disease characteristic, DNA, mKIAA1235, TEF2, malignant mixed mesodermal (mullerian) tumor, KI-RAS, whole exome, chromatin modification, l(3)SG40, T1N24_9, High Throughput DNA Sequencing, SGCG_HUMAN, Disassembly, p53, Kras2, NS3, 9330189K18Rik, Chromatin Disassemblies, Gene, T1N24.9, High-Throughput DNA, chromatin assembly/disassembly, LFS1, Illumina, TYPE, KIAA1506, Next-Generation Sequencing, DAGA4, hELD, histone deacetylase 2, Deep, BC065123, histone deacetylase 1, 35DAG, DNA Damage Response, Kras-2, ARABIDOPSIS HISTONE DEACETYLASE 1, Histone Deacetylase Complexes, l(3)j1D1, Gtl5, l(3)S086909, Massively Parallel Sequencing, qualifier, Chromatin Disassembly, MAM, gamma-SG, HISTONE DEACETYLASE 19, Spop, SCG3, Pi3, Phosphotransferase, Pi6, Histone H3.3, KRAS2, KRAS1, p21B, l(3)03477, Ion Proton Sequencing, Methyltransferase, MutS/MutL/MutH pathway, Genetic, l(3)dsl-6, K-RAS4B, K-RAS4A, DNA Mismatch, BAF250, Pcif1, Pyrosequencing, Serpina1c, Transphosphorylase, Class II Histone Deacetylases, Sequencing, HIB, MLL3, MMMT, Trp53, 6A3-5, chromatin assembly or disassembly, Wcrf180, hACF1, High-Throughput, RNA Sequencing, Spi1-6, TRP53, Carcinosarcomas, Spi1-3, constitutitional genetic, HISTONE DEACETYLASE19, hib, carcinosarcoma, CG10235, SMARCF1, modifier, CG12537, findings, BM029, ELD/OSA1, 35 kDa dystrophin-associated glycoprotein, P250R, malignant, K-RAS2B, K-RAS2A, AI315626, mesodermal mixed tumor (morphologic abnormality), CG9924, K-ras, c-Ki-ras, Qualifier, Cistrons, Histone, Phosphotransferases, SGCG, HISTONE DEACETYLASE, LGMD2C, Xp53, disease management., mixed Mullerian tumor, DNA Sequencing, 1110030E03Rik, anon-WO0118547.577, rare (European definition), transcription-coupled nucleosome assembly, AI929937, HDA19, Next Generation Sequencing, BRIGHT, disease qualifier, MRD14, Chromatin, MRD12, C1orf4, BAF250B, NS, DMDA1, Chromatin Modeling, Kinases, Histone Deacetylase, massively-parallel sequencing, MutL-like pathway, Dromel_CG9924_FBtr0082871_rdx_mORF, mullerian mixed tumor (morphologic abnormality), l(3)dsl6, Histone H1(s), Modifier, massively parallel sequencing, mullerian mixed tumor, ATP-dependent chromatin remodelling, WCRF180, High-Throughput Sequencing, Therapeutic, kras, CFC2, Mullerian, SCARMD2, HDAC Proteins, High Throughput Nucleotide Sequencing, Treatment, Ion Proton, hereditary, High-Throughput Nucleotide, ARABIDOPSIS HISTONE DEACETYLASE 19"],"additional_accession":[]},"is_claimable":false,"name":"Carcinosarcoma Data Access Committee","description":"Data Access Committee EGAC00001000234","dates":{"output":"2025-1-9"},"accession":"EGAC00001000234","cross_references":{"TAXONOMY":["9606"],"pubmed":["25233892"],"EGA":["EGAS00001000941","EGAD00001000987"]}}