{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2000;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001001056"],"sample_count":["7"],"description":["EGA dataset EGAD00001001056"],"repository":["EGA"],"title":["DATA FILES FOR BALL-PAX5-WES"],"pubmed_abstract":["Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. A second ETV6 p. N385fs mutation was identified in an unrelated kindred characterized by thrombocytopenia, ALL and secondary myelodysplasia/acute myeloid leukemia. Leukemic cells from the proband in the second kindred showed deletion of wild type ETV6 with retention of the ETV6 p. N385fs. Enforced expression of the ETV6 mutants revealed normal transcript and protein levels, but impaired nuclear localization. Accordingly, these mutants exhibited significantly reduced ability to regulate the transcription of ETV6 target genes. Our findings highlight a novel role for ETV6 in leukemia predisposition."],"pubmed_title":["Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia."],"pubmed_authors":["Topka Sabine S, Vijai Joseph J, Walsh Michael F MF, Jacobs Lauren L, Maria Ann A, Villano Danylo D, Gaddam Pragna P, Wu Gang G, McGee Rose B RB, Quinn Emily E, Inaba Hiroto H, Hartford Christine C, Pui Ching-Hon CH, Pappo Alberto A, Edmonson Michael M, Zhang Michael Y MY, Stepensky Polina P, Steinherz Peter P, Schrader Kasmintan K, Lincoln Anne A, Bussel James J, Lipkin Steve M SM, Goldgur Yehuda Y, Harit Mira M, Stadler Zsofia K ZK, Mullighan Charles C, Weintraub Michael M, Shimamura Akiko A, Zhang Jinghui J, Downing James R JR, Nichols Kim E KE, Offit Kenneth K"],"pubmed_title_synonyms":["ALL, precursor lymphoblastic lymphoma/leukemia, Lymphocytic Leukemia, \"Thrombocytopenia NOS\" EXACT [SNOMEDCT_2005_07_31:154827000]., Thrombopenias, acute lymphoblastic leukaemia, Lymphoid Leukemia, Philadelphia-Positive, L1 Lymphocytic Leukemia, Mutations, Lymphoblastic Lymphoma, \"thrombocytopenia\" EXACT [NCI2004_11_17:C3408], Acute Lymphoid Leukemia, Acute Lymphocytic, Acute Lymphoid, TEL/ABL, acute lymphocytic leukaemia, Childhood ALL, \"Platelet count below reference range\" EXACT [SNOMEDCT_2005_07_31:415116008], Lymphoblastic Leukemia, Lymphocytic, \"Thrombocytopenic disorder (disorder)\" EXACT [SNOMEDCT_2005_07_31:302215000], susceptibility, unspecified\" EXACT [ICD9CM_2006:287.5], Leukemia, lymphoblastic leukaemia, \"Thrombocytopenia (disorder)\" EXACT [SNOMEDCT_2005_07_31:70786006], Thrombocytopenias, Thrombopenia, Lymphoblastic, \"thrombocytopenia\" EXACT [CSP2005:0446-5652], Low platelet count, AW123102, Childhood, Acute Lymphoblastic Leukemia, Adult, \"thrombocytopenia\" EXACT [MTH:U000208], L2 Lymphocytic, Acute Lymphoblastic, L1, lymphoblastic leukemia, Acute, L2, L1 Lymphocytic, Precursor Cell Lymphoblastic Leukemia Lymphoma, Lymphoma, L2 Lymphocytic Leukemia, Acute lymphoblastic leukemia, Lymphoid, \"Thrombocytopenia NOS (disorder)\" EXACT [SNOMEDCT_2005_07_31:191326009], TEL|ABL, AW557856, TEL, Tel, Acute Lymphocytic Leukemia, \"Thrombocytopenia"],"name_synonyms":["WES., EBB-1, B-cell-specific transcription factor, Pax-5, PAX5, ALL3, KLP, BSAP"],"pubmed_abstract_synonyms":["Myelogenous Leukemias, Myelocytic, Acute Myeloblastic, MGC130048, protein levels, acute myeloblastic leukemia, Materials, SGCG_HUMAN, Nonlymphocytic Leukemia, acute non lymphoblastic leukemia, Myeloid, acute myeloblastic leukaemia, Neoplasms, acute myelogenous leukaemia, Thrombopenias, Benign Neoplasm, Myelocytic Leukemia, A4, Gene, Tumor, Malignant, Acute Myeloid, TYPE, Acute Myelocytic Leukemias, Mutations, DAGA4, acute non lymphoblastic leukaemia, reduced, Roles, 35DAG, establishment and maintenance of position, symptoms, leukaemia NOS, Acute Myelocytic, Acute Nonlymphoblastic, Concepts, Leucocythaemias., acute myeloid, establishment and maintenance of substrate location, tiny, Leucocythaemia, MAM, gamma-SG, leukaemia, SCG3, Myeloblastic Leukemia, average, gamma sarcoglycan, Leukemia, lymphoblastic leukaemia, Genetic, Malignancy, \"Thrombocytopenia (disorder)\" EXACT [SNOMEDCT_2005_07_31:70786006], Thrombocytopenias, Acute Myelogenous, Acute Myeloblastic Leukemia, \"thrombocytopenia\" EXACT [CSP2005:0446-5652], hypoplasia, Leucocythemias, Low platelet count, Myelogenous Leukemia, Acute Nonlymphocytic Leukemias, \"thrombocytopenia\" EXACT [MTH:U000208], retention, genetic, Acute Myeloid Leukemia without Maturation, Neoplasias, lymphoblastic leukemia, Acute Nonlymphoblastic Leukemia, Acute Nonlymphocytic Leukemia, Role Concepts, Myeloid Leukemia, Myelocytic Leukemias, gamma-sarcoglycan, s, ANLL, Malignancies, Nonlymphoblastic Leukemias, TEL|ABL, AW557856, constitutitional genetic, transcription from bacterial-type RNA polymerase promoter, myelodysplastic syndrome, Cancer, Tumors, \"Thrombocytopenia, acute myelogenous, small, leukemia, Myelogenous, establishment and maintenance of substance location, screening, M1, M2, findings, Malignant Neoplasm, acute myelogenous leukemia, 35 kDa dystrophin-associated glycoprotein, familial, SG-gamma, Cistrons, INSDC_feature:misc_RNA, Leukemias, Cell, SGCG, LGMD2C, AML, Concept, Acute Myelocytic Leukemia, Nonlymphoblastic Leukemia, Nonlymphocytic Leukemias, single organism localization, Nonlymphoblastic, MT, Benign, Role Concept, Acute Myeloid Leukemias, \"thrombocytopenia\" EXACT [NCI2004_11_17:C3408], Myeloid Leukemias, Neoplasm, Role, Genetic Materials, sarcoglycan, establishment and maintenance of localization, TEL/ABL, Acute Nonlymphocytic, \"Platelet count below reference range\" EXACT [SNOMEDCT_2005_07_31:415116008], Genetic Material, Acute Myelogenous Leukemia, \"Thrombocytopenic disorder (disorder)\" EXACT [SNOMEDCT_2005_07_31:302215000], acute, Acute myelogenous leukemia, Leucocythemia, unspecified\" EXACT [ICD9CM_2006:287.5], acute lymphoblastic leukemia (ALL), DMDA1, underdeveloped, Myeloblastic, storage, susceptibility to, Thrombopenia, Myeloblastic Leukemias, Acute Myeloid Leukemia, signs, common, Benign Neoplasms, acute myeloid leukemia, acute myeloid leukaemia, AW123102, Cancers, single-organism localization, Nonlymphocytic, gamma (35kDa dystrophin-associated glycoprotein), Malignant Neoplasms, Acute Myeloid Leukemia with Maturation, metastatic, Acute, DMDA, localisation, Acute Nonlymphoblastic Leukemias, DEL, Material, Acute Myeloblastic Leukemias, 35kD dystrophin-associated glycoprotein, bacterial transcription, SCARMD2, Acute Myelogenous Leukemias, Cistron, acute lymphoblastic leukaemia (ALL), inherited genetic, \"Thrombocytopenia NOS (disorder)\" EXACT [SNOMEDCT_2005_07_31:191326009], sequestering, TEL, Tel, hereditary, Neoplasia, AML - acute Myeloid Leukemia, \"Thrombocytopenia NOS\" EXACT [SNOMEDCT_2005_07_31:154827000], establishment and maintenance of cellular component location"],"description_synonyms":["Desc, Description, Descriptive, Provide., Supplied, Supply, Descriptor, description, Provided, Product Description/Appearance, DESCR"],"additional_accession":[]},"is_claimable":false,"name":"PCGP BALL-PAX5 WES - samples","description":"Description not provided","dates":{"updated":"2017-07-26 15:39:26"},"accession":"EGAD00001001056","cross_references":{"TAXONOMY":["9606"],"pubmed":["26102509"],"EGA":["EGAC00001000044","EGAS00001000447"]}}