Article
NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia.
Leukemia - 1 Dec 2018
Tulstrup Morten, Grosjean Marie, Nielsen Stine Nygaard, Grell Kathrine, Wolthers Benjamin Ole, Wegener Peder Skov, Jonsson Olafur Gisli, Lund Bendik, Harila-Saari Arja, Abrahamsson Jonas, Vaitkeviciene Goda, Pruunsild Kaie, Toft Nina, Holm Mette, Hulegårdh Erik, Liestøl Sigurd, Griskevicius Laimonas, Punab Mari, Wang Jinhua, Carroll William L, Zhang Zeyu, Dalgaard Marlene D, Gupta Ramneek, Nersting Jacob, Schmiegelow Kjeld
Abstract excerpt
The antileukaemic drug 6-mercaptopurine is converted into thioguanine nucleotides (TGN) and incorporated into DNA (DNA-TG), the active end metabolite. In a series of genome-wide association studies, we analysed time-weighted means (wm) of erythrocyte concentrations of TGN (Ery-TGN) and DNA-TG in 1009 patients undergoing maintenance therapy for acute lymphoblastic leukaemia (ALL). In discovery analyses (454...
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