Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 Biomarker disease BEFREE However, to date, TPMT is the only pharmacogenetic marker in ALL with clinical guidelines for drug dosing. 25155938 2014
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
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
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 GeneticVariation disease BEFREE Mercaptopurine dose can be adjusted on the basis of TPMT genotype to mitigate toxicity in pediatric patients with ALL. 20021291 2010
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 GeneticVariation disease BEFREE The prevalence of thiopurine S-methyltransferase (TPMT) polymorphism and its association with clinical and hematological toxicities was retrospectively analyzed in 71 Indian children with acute lymphoblastic leukemia (ALL). 20153897 2010
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 Biomarker disease BEFREE These data suggest that children with ALL and TPMT wild type might have their cure rate improved, if the pharmacokinetics/-dynamics of TPMT low-activity patients could be mimicked without a concurrent excessive risk of second cancers. 18987654 2009
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 GeneticVariation disease BEFREE In conclusion, genetic polymorphism of ITPA is a significant determinant of mercaptopurine metabolism and of severe febrile neutropenia, after combination chemotherapy for ALL in which mercaptopurine doses are individualized on the basis of TPMT genotype. 18685564 2009
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 Biomarker disease BEFREE We also characterized disease features and outcome according to the presence of TPMT SNPs in children with acute lymphoblastic leukemia (ALL). 19034904 2009
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 GeneticVariation disease BEFREE Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping. 18385010 2008
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 GeneticVariation disease BEFREE The TPMT genotype was determined in 55 patients with ALL. 16966276 2006
Entrez Id: 7172
Gene Symbol: TPMT
TPMT
0.100 Biomarker disease BEFREE The mean calculated cost per life-year gained by TPMT genotyping in ALL patients in the four study countries was euro 2100 (or euro 4800 after 3% discount) based on genotyping costs of euro 150 per patient. 16886902 2006