EGAGenomicsOtherhttps://ega-archive.org/studies/EGAS00001004392EGAEGA study EGAS00001004392AT-AML samples datasetEGArestrictedGenomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R.Goldgraben Mae A MA, Fewings Eleanor E, Larionov Alexey A, Scarth James J, Redman James J, Telford Nick N, Arkwright Peter D PD, Bonney Denise D, Wilks Deepti D, Kulkarni Samar S, Taylor A Malcolm R AMR, Tischkowitz Marc D MD, Meyer Stefan SRunx-1, aml, leukemia, study, Acute myelogenous leukemia, Leukemia, acute non lymphoblastic leukemia, Myeloid, Myeloblastic, Xaml1, Acute Myeloblastic Leukemia, susceptibility to, Acute Myeloid Leukemia, aml1., amlcr1, pebp2ab, AML, XAML, Acute, acute non lymphoblastic leukaemia, aml-1, ANLL, acute myeloid, aml1-evi-1, cbfa2, evi-1, acute myelogenousAtaxia Telangiectasia, Myelocytic, acute myeloblastic leukemia, Tefu, acute non lymphoblastic leukemia, Myeloid, Complete Exome, ARABIDOPSIS THALIANA ATAXIA-TELANGIECTASIA MUTATED, acute myeloblastic leukaemia, ataxia - telangiectasia variant, Neoplasms, acute myelogenous leukaemia, Telangiectasia, Louis-Bar Syndrome, Benign Neoplasm, tef, Tumor, Malignant, Mutations, atm/tefu, DmelCG6535, "Louis-Bar syndrome" EXACT [NCI2004_11_17:C2887], acute non lymphoblastic leukaemia, C030026E19Rik, AT, Whole Transcriptome, Transcriptome Sequencing, Louis Bar Syndrome, acute myeloid, TELO1, tel1, Runx-1, Louis-Bar, WES, Leukemia, Complete, Exome Sequencings, Malignancy, complementation group A, Acute Myeloblastic Leukemia, Complete Exome Sequencing, Whole Transcriptome Sequencing, complementation group E, complementation group D, complementation group C, cerebello-oculocutaneous telangiectasia, "Louis-Bar syndrome" EXACT [MTHICD9_2006:334.8], amlcr1, pebp2ab, aml1, Sequencing, AT1, at1, XAML, genetic, Neoplasias, Cerebello-Oculocutaneous, Whole Exome, malignant neoplasm, Xatm, Clients, Whole, sample, Syndrome, ATA, telo1, ATC, ATD, "Ataxia-telangiectasia syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:68504005], ATE, ANLL, Malignancies, "Louis Bar syndrome" EXACT [CSP2005:0485-2495], constitutitional genetic, ATM, time point, Atm, Cancer, Tumors, acute myelogenous, leukemia, Ataxia Telangiectasia Syndrome, Malignant Neoplasm, acute myelogenous leukemia, Complete Exome Sequencings, whole blood, Exome, familial, CG6535, atm, Client, AML, Exome Sequencing, MT, Benign, Neoplasm, TEL1, aml1-evi-1, dATM, cbfa2, evi-1, acute, aml, Acute myelogenous leukemia, AI256621, Complete Transcriptome, primary cancer, Complete Transcriptome Sequencing, Myeloblastic, Xaml1, susceptibility to, immunodeficiency with ataxia telangiectasia, Acute Myeloid Leukemia, Benign Neoplasms, acute myeloid leukemia, acute myeloid leukaemia, patient, Cancers, Ataxia-Telangiectasia, ataxia-telangiectasia mutated, ATATM, malignant tumor, sample population, atdc, Malignant Neoplasms, metastatic, Acute, Patient, ATDC, aml-1, Whole Exome Sequencing, ataxia-telangiectasia, inherited genetic, hereditary, Transcriptome Sequencings, Neoplasia, AML - acute Myeloid Leukemia, Malignant Neoplasms.Myelocytic, Ataxia Telangiectasia, KI-RAS, MGC130048, B430204O07, acute myeloblastic leukemia, SGCG_HUMAN, IL-7R-alpha, CDw127, acute myeloblastic leukaemia, ataxia - telangiectasia variant, acute myelogenous leukaemia, Telangiectasia, p53, Kras2, NS3, Louis-Bar Syndrome, A4, C87777, LFS1, TYPE, Tp53, DAGA4, ras, "Louis-Bar syndrome" EXACT [NCI2004_11_17:C2887], IL-7RA, bbl, 35DAG, Kras-2, AT, Louis Bar Syndrome, MAM, gamma-SG, SCG3, C-K-RAS, k-ras, G3bp, G3BP, KRAS2, KRAS1, rask2, p21B, Louis-Bar, gamma sarcoglycan, Leukemia, BCC7, complementation group A, K-RAS4B, complementation group E, K-RAS4A, complementation group D, complementation group C, cerebello-oculocutaneous telangiectasia, "Louis-Bar syndrome" EXACT [MTHICD9_2006:334.8], CDW127, AT1, Cerebello-Oculocutaneous, Trp53, Karyotypes, IL-7Ralpha., Syndrome, gamma-sarcoglycan, "Ataxia-telangiectasia syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:68504005], TRP53, "Louis Bar syndrome" EXACT [CSP2005:0485-2495], AI849976, IL-7R subunit alpha, IL7R, Ataxia Telangiectasia Syndrome, acute myelogenous leukemia, 35 kDa dystrophin-associated glycoprotein, IL7RA, Ki-ras, K-RAS2B, K-RAS2A, HDH-VIII, SG-gamma, K-ras, mKIAA4115, c-Ki-ras, SGCG, LGMD2C, Xp53, IL-7 receptor subunit alpha, p21, ILRA, sarcoglycan, bfy, AI929937, acute, NS, DMDA1, immunodeficiency with ataxia telangiectasia, acute myeloid leukemia, acute myeloid leukaemia, Ataxia-Telangiectasia, gamma (35kDa dystrophin-associated glycoprotein), DMDA, RASK2, 35kD dystrophin-associated glycoprotein, kras, CFC2, SCARMD2, P53, ataxia-telangiectasia, p44, bhy, CD127, AML - acute Myeloid LeukemiafalseGenomic study of an AT-AMLAtaxia Telangiectasia (A-T) is caused by biallelic mutations in ATM and confers predisposition to cancer, with acute myeloid leukaemia (AML) being rarely observed. We investigated an AML arising in an A-T patient for secondary genetic events by performing whole exome sequencing of serial samples over the disease course. AML samples were compared to a reference "germline" sample from a much earlier time point. Goldgraben et al 2020, Pediatric Blood & Cancer2020-05-18 07:51:38EGAS00001004392960632383811EGAD00001006090EGAC00001001565