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PCGP INF RNASeq - samples

ABSTRACT: DATA FILES FOR SJINF RNASeq

PROVIDER: EGAD00001001098 | EGA |

REPOSITORIES: EGA

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Publications

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.

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

PLoS genetics 20150623 6

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 th ...[more]

PMID: 26102509

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