Article
TERT rs2736100 A>C SNP and JAK2 46/1 haplotype significantly contribute to the occurrence of JAK2 V617F and CALR mutated myeloproliferative neoplasms - a multicentric study on 529 patients.
British journal of haematology - 1 Jul 2016
Trifa Adrian P, Bănescu Claudia, Tevet Mihaela, Bojan Anca, Dima Delia, Urian Laura, Török-Vistai Tünde, Popov Viola M, Zdrenghea Mihnea, Petrov Ljubomir, Vasilache Anca, Murat Meilin, Georgescu Daniela, Popescu Mihaela, Pătrinoiu Oana, Balea Marius, Costache Roxana, Coleș Elena, Șaguna Carmen, Berbec Nicoleta, Vlădăreanu Ana-Maria, Mihăilă Romeo G, Bumbea Horia, Cucuianu Andrei, Popp Radu A
Abstract excerpt
Polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) represent typical myeloproliferative neoplasms (MPN), usually characterized by specific somatic driver mutations (JAK2 V617F, CALR and MPL). JAK2 46/1 haplotype and telomerase reverse transcriptase gene (TERT) rs2736100 A>C single nucleotide polymorphism (SNP) could represent a large fraction of the genetic predisposition...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.