{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2000"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001000163"],"sample_count":["18"],"description":["EGA dataset EGAD00001000163"],"repository":["EGA"],"title":["DATA FILES FOR SJPHALL"],"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"],"additional_accession":[]},"is_claimable":false,"name":"PCGP PHALL - samples","description":"DATA FILES FOR SJPHALL","dates":{"updated":"2019-10-31 12:52:09"},"accession":"EGAD00001000163","cross_references":{"TAXONOMY":["9606"],"pubmed":["26102509"],"EGA":["EGAC00001000044","EGAS00001000253"]}}