Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE To evaluate the roles of thiopurine methyltransferase (TPMT), inosine triphosphatase (ITPA), and Nudix hydrolase 15 (NUDT15) in 6-mercaptopurine (6-MP) sensitivity during treatment of pediatric patients with acute lymphoblastic leukemia (ALL). 31635813 2020
Childhood Acute Lymphoblastic Leukemia
0.100 AlteredExpression disease BEFREE These results support the role of PACSIN2 polymorphism on TPMT activity and mercaptopurine adverse effects in patients with ALL. 31792371 2019
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE A total of 96 children with ALL undergoing therapy with MCP-841 protocol were screened for all the ten exons of TPMT, exon 2, exon 3 and intron 2 of ITPA using bidirectional sequencing. 30806759 2019
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE We investigated the role of TPMT, ITPA, ABCC4 and ABCB1 genetic variants as predictors of outcome and 6-mercaptopurine induced toxicity during the maintenance phase of treatment in pediatric acute lymphoblastic leukemia. 30598629 2018
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE To explore the levels of thioguanine incorporated into DNA (DNA-TG), and erythrocyte levels of 6-thioguanine nucleotides (Ery-TGN) and methylated metabolites (Ery-MeMP) during 6-mercaptopurine (6MP)/Methotrexate (MTX) therapy of childhood acute lymphoblastic leukemia (ALL) and the relation to inosine triphosphatase (ITPA) and thiopurine methyltransferase (TPMT) gene variants. 29387964 2018
Childhood Acute Lymphoblastic Leukemia
0.100 AlteredExpression disease BEFREE The present study assessed the genetic polymorphisms and activity of TPMT in children with AML at different treatment stages, and compared the results with those obtained for children with ALL. 30214603 2018
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE This is the first report on the association of TPMT and NUDT15 polymorphisms with MP dose intolerance in Arab patients with ALL. 27577869 2017
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Thiopurine-related hematotoxicity in pediatric acute lymphoblastic leukemia (ALL) and inflammatory bowel diseases has been linked to genetically defined variability in thiopurine S-methyltransferase (TPMT) activity. 27770449 2017
Childhood Acute Lymphoblastic Leukemia
0.100 AlteredExpression disease BEFREE We explored the risk of second cancer in relation to protocols, risk group, thiopurine methyltransferase (TPMT) activity, ALL high hyperdiploidy (HeH), and t(12;21)[ETV6/RUNX1]. 28500740 2017
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE To note, the null homozygous TPMT*3A/TPMT*3A genotype was found in 2.5% of the non-ALL subjects. 28476189 2016
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE The high frequency of risk variant for NUDT15, but not the very low frequency of risk variant for TPMT, was closely associated with the intolerance to mercaptopurine in children with ALL in Taiwan, contrast to that of European descent. 26503813 2016
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE The TPMT promoter genetic variants need to be considered at the very beginning of the maintenance therapy for childhood ALL patients. 26411491 2015
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE There are examples of germline genomic associations that warrant routine clinical use in the treatment of childhood ALL (eg, TPMT and mercaptopurine dosing), but most have not reached this level of actionability. 25999454 2015
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms including those that affect the folate and/or thiopurine metabolic pathways, i.e. cyclin D1 (CCND1-G870A), γ-glutamyl hydrolase (GGH-C452T), methylenetetrahydrofolate reductase (MTHFR-C677T and MTHFR-A1298C), thymidylate synthase promoter (TYMS-TSER), thiopurine methyltransferase (TPMT*3A and TPMT*3C) and inosine triphosphate pyrophosphatase (ITPA-C94A), in Caucasian (n = 94, age < 20) and Vietnamese (n = 141, age < 16 years) childhood ALL and (b) to assess the impact of a multilocus genetic risk score (MGRS) on relapse-free survival (RFS) using a Cox proportional-hazards regression model. 25099492 2015
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE The aim of this study was to evaluate the influence of the most common genetic variants in methylenetetrahydrofolate reductase (MTHFR), thiopurine methyltransferase (TPMT) and glutathione-S-transferases (GSTs) on the outcome of acute lymphoblastic leukemia (ALL) treatment in Argentinean children. 25110820 2015
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE TPMT and MTHFR genotype is not associated with altered risk of thioguanine-related sinusoidal obstruction syndrome in pediatric acute lymphoblastic leukemia: a report from the Children's Oncology Group. 24737678 2014
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE However, to date, TPMT is the only pharmacogenetic marker in ALL with clinical guidelines for drug dosing. 25155938 2014
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE However, TPMT*2, TPMT 719*G and CYP1A1*2 variants did not appear to influence ALL susceptibility (p > 0.05). 23065291 2013
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE No statistically significant differences between admixed and indigenous ALL (p = 0.67) or controls (p = 0.41) groups were detected; however, 17 % of the admixed healthy group bore one TPMT mutant allele, and they have one of the highest reported frequencies of TPMT mutant allele carriers. 23377985 2013
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE Thiopurine S-methyltransferase pharmacogenetics in childhood acute lymphoblastic leukemia. 23666706 2013
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE To explore the role of genetic variants of thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) in 6-mercaptopurine (6-MP)-induced toxicity in Indian children with acute lymphoblastic leukemia (ALL). 22009189 2012
Childhood Acute Lymphoblastic Leukemia
0.100 AlteredExpression disease BEFREE To identify additional genetic determinants of mercaptopurine toxicity, a genome-wide analysis was performed in a panel of human HapMap cell lines to identify trans-acting genes whose expression and/or single-nucleotide polymorphisms (SNPs) are related to TPMT activity, then validated in patients with ALL. 22846425 2012
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE The rationale of this study was to explore the contribution of genetic variants of the folate pathway to toxicity of 6-mercaptopurine (6-MP)-mediated hematological toxicity in children with acute lymphoblastic leukemia (ALL) and to explore the interaction of these variants with TPMT and ITPA haplotypes using multifactor dimensionality reduction analysis. 22838948 2012
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE The frequency and distribution of common TPMT polymorphisms in Turkish children with ALL is similar to other Caucasian populations. 21400026 2011
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE Decision analysis was used to evaluate the impact of TPMT tests on preventing myelosuppression and improving survival in ALL patients receiving 6-MP. 21344614 2011