{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Cancer Genomics"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001003760"],"host":["EGA"],"description":["EGA study EGAS00001003760"],"dataset_title":["RNA-sequencing","Whole Exome Sequencing"],"category":["restricted"],"repository":["EGA"],"name_synonyms":["leukemia, Leucocythemia, pre-B-cell, B cell precursor, B-cell precursor, Gain of Chromosome 21., heredity, pediatric, leukaemia NOS, pre-B cell, Leucocythemias, Leucocythaemia, Childhood, leukaemia, Pediatric, Leukemias, Leucocythaemias"],"description_synonyms":["Trisomy 21 NOS, RAS, Ras, DmErk, extracellular signal-regulated kinase activity, l(1)G0098, pp44mapk, Ass-1, Incidences, B acute lymphoblastic leukaemia, Person-time Rates, Proportion, Ras-1, Prp4 protein kinase activity, Mutations, Compared, ras, c-ras2, LeMPK3, ATP-protein transphosphorylase activity, p44mpk, ATP:protein phosphotransferase (non-specific) activity, fold, Dp38, Related, SAPK2, SEM, Sem, treatment, MAP-k, pp42, result, Dsor2, Comparison, sem, Presentation, B cell acute lymphocytic leukaemia, Better, Relationship, B-cell acute lymphocytic leukaemia, CG1799, ERK-A, p82 kinase activity, dpERK, dpErk, B acute lymphoblastic leukemia, Ras2, RAS2, Ras1, RAS1, acute B cell lymphocytic leukaemia, Trisomy 21, familial, betaIIPKC, Down's Syndrome, Need, WORSENED, DmMAPK, PMK-2, dp-ERK, PMK-1, PMK-3, Wee-kinase activity, Incidence Rates, Down's syndrome NOS (disorder), dRas85D, pMAPK, pMapK, Worse, ras1, Person-time Rate, ras2, WORSE/DECLINING, activation, BcDNA:RE36103, Adapt, DmERKA, rl/MAPK, Trisomy 21 Syndrome, fast rate, Down's syndrome NOS, Definite Attribution, Hras-1, non-specific serine/threonine protein kinase activity, Dm Ras1, l(2)41Ac, Mitotic Nondisjunction, Children, Present, surveillance, Adaptation, Leading, Characterized, Down, RasI, CT34260, dpERk, serine-specific protein kinase activity, SAPK, HIPK2, cytidine 3', Secondary Attack Rates, Wee 1-like kinase activity, Harvey-ras, Partial Trisomy 21, Hras1, glycogen synthase A kinase activity, G Trisomy, dRas, glycogen synthase kinase 3 activity, CG1167, 12559, H-ras, DRAS1, DRas2, IMPDH, LD06825, phosphorylase b kinase kinase activity, EK2-1, Dras2, Dras1, Rate, D-Ras, It improved, Kras-2, Attack Rates, Chromosome 21, IMPdH, ribosomal protein S6 kinase II activity, increase in risk, Ha-ras, trisomy 21 syndrome, Pediatric, Down's syndrome - trisomy 21, Erk, ERK, Dras, PRKM1, Modification, ras 1, PRKM2, protein-serine kinase activity, In, occurrence, raspberry/impd, prevalence, STK32, BETTER/IMPROVED/RECOVERING, Ras[V12], EK3-4, outcome, erk, DRas, DRas85D/Ras, Cumulative, Dmras64B, protein-cysteine kinase activity, Down syndrome, Syndrome, Person-time, Hpr kinase activity, Person time Rate, transient myeloproliferative disorder of Down syndrome, rll, STK26, p38-2, Leukemogenesis, constitutitional genetic, myelin basic protein kinase activity, leukemia, Fanconi anemia, Adapted, Result, Preceding, Down Syndrome, stress-activated kinase activity, MAP-2 kinase activity, Secondary Attack, D-ras-1, protein serine kinase activity, Faces, protein phosphokinase activity, E(faf), Cumulative Incidences, DmelCG1167, PKA, PKC, Have, stress-activated protein kinase activity, mapk2, LCE, mapk1, S35097, Lymphomagenesis, outbreaks, protein kinase p58 activity, Before, serine/threonine protein kinase activity, Definitely Related to Intervention, Modified, RAS85D, Dmras85D, CG12559, l(1)9Eb, Trisomy G, dpERK1, complete trisomy 21 syndrome, Changed, Childhood, dsk1, 5'-cyclic monophosphate-responsive protein kinase activity, atypical PKC activity, Incidence Proportion, dpMAPK, epidemics, hereditary, protein serine-threonine kinase activity, SAP kinase activity, Downs Syndrome, glycogen synthase kinase activity, Ras1/RAs85D, Presented, Needs, protein kinase A activity, Mpk2, Characterization, c-rasHa, p42mapk, E(sev)3C, B-cell lymphoblastic leukaemia, CG11485, SR2-1, Presenting, AA408052, kinase-related transforming protein, Incidence Rate, mitogen-activated protein kinase activity, Prior, mpk1, D-Ras1, Definite, B-cell acute lymphoblastic leukaemia, Erk/Map kinase, RTK, acute B-cell lymphocytic leukemia, IMPROVED, l(1)G0436, DERK-A, Association, ras85B, ras85D, E(sina)7, Rl, Raf kinase activity, B-cell acute lymphoblastic leukemia, genetic, ASS, MP kinase activity, serine kinase activity, DERK, trisomy 21, D-ras-2, atypical protein kinase C activity, Meiotic Nondisjunction, Had, disease management, Therapies, MBP kinase II activity, mitogen-activated S6 kinase activity, megakaryoblastic, protein-aspartyl kinase activity, dERK, Outcome, associated, Has, FACE, Therapy, Pre, 47, l(3)s1747, MAP kinase 2 activity, Mapk, Ki-ras, frequency, pediatric, Erk1, ERK1, ERK2, mapk1a, somatic, M phase-specific cdc2 kinase activity, Leukemogenesis/Lymphomagenesis, mapk1b, MapK, MAPK, p21[Ras1], Adverse Event Definitely Related to Intervention, Adverse Event Related to Intervention, dRas1, dRAS1, serine protein kinase activity, Dras85D, erk2, mapk, ras-2, B-ALL, ERKa, phosphorylase B kinase kinase activity, l(1)G0351, LD02673, BcDNA:RE08694, protein glutamyl kinase activity, DmelCG1799, c-Ha-ras, l(2R)EMS45-39, D-ras1, l(1)G0238, Due To, D-ras2, DmelCG12559, C-ras1, p38, Dras64B, Presence, Improved, Treatments, morbidity, C-ras2, l(3)06677, DpErk, DpERK, l(1)G0002, ErkA, ERKA, l(1)G0482, hydroxyalkyl-protein kinase activity, WEE1Hu, c-H-ras, FAE, epsilon PKC, l(1)G0127, inherited genetic, acute B cell lymphocytic leukemia, pERK, XX, XY, ribosomal S6 protein kinase activity, calcium/phospholipid-dependent protein kinase activity, RasV12, GroupII, Kras2, DmelCG9375, Compare, B-cell lymphoblastic leukemia, Secondary Attack Rate, l(1)G0388, B-cell type acute leukaemia, Relations, serine(threonine) protein kinase activity, Down's, l(1)G0380, T-antigen kinase activity, p21B, galactosyltransferase-associated kinase activity, study, Somatic, dras1, Dm-ras-64B, PRESENT, Partial Trisomy 21 Down Syndrome, Down syndrome chromosome region, xp42, of Down syndrome, complementation group E, Better than Others, l(1)G0391, p42 mitogen-activated protein kinase activity, Mongolism, B-cell acute lymphocytic leukemia, CG18732, ATP:protein phosphotransferase (MAPKK-activated) activity, Ras 85D, protein kinase (phosphorylating) activity, Raf-1, Found, DmERK-A, Incidence Proportions, ras-l, casein kinase (phosphorylating) activity, incidence, B-cell acute lymphoblastic leukemia., Possess, Morbidities, l(1)G0056, ert1, visage, B cell acute lymphocytic leukemia, CG9375, facia/facies, Attack Rate, Cumulative Incidence, Incidence, prkm2, prkm1, CT39192, B-cell type acute leukemia, Certain, K-ras, Complete trisomy 21 syndrome, Related Attribution, p38delta, high rate, fs(3)05703, twitchin kinase activity, Complete trisomy 21 syndrome (disorder), +21, EP(X)1093, AP50 kinase activity, MBP kinase I activity, AI929937, Xp42, threonine-specific protein kinase activity, acute B-cell lymphocytic leukaemia, Adaption, mitogen activated kinase activity, Su(Raf)2B, EY2-2, Su(tor)3-2, endemics, Secondary, D-ERK, Therapeutic, Change, Attack, Down syndrome critical region, BEFORE, Treatment, T21 - Trisomy 21, MAP kinase 1 activity, A-kinase activity"],"additional_accession":[]},"is_claimable":false,"name":"Genetics and transcriptomes of pediatric B cell precursor leukemia with gain of chromosome 21","description":"Down syndrome (DS, constitutive trisomy 21) children have a 27-fold increased risk of developing B-ALL (DS-ALL), face a worse outcome due to treatment-related morbidities, and an increased rate of relapses compared to other children. This highlights the need to better understand the mechanisms of DS-associated leukemogenesis to develop more adapted treatment. In this study, we characterized the genetic and transcriptomic landscapes of DS-ALL and found a high incidence of somatic mutations leading to RAS/MAPK pathway activation in DS-ALL, as seen in other pediatric B-ALL presenting somatic gains of the chromosome 21 (B-ALL+21).","dates":{"updated":"2022-02-21 13:14:33"},"accession":"EGAS00001003760","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAD00001005425","EGAD00001005426","EGAC00001001348"]}}