Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Lymphoblastic Leukemia
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
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE In the study of 50 patients with childhood ALL treated according to the BFM-like protocol, it was found that even TPMT-heterozygous patients are at greater risk of thiopurine drug-related leukopenia (mean duration of period when children missed therapy as a result of leukopenia for TPMT-heterozygous patients was 11.3 weeks vs 3.4 weeks for wild-type genotype patients, P < 0.01). 17164697 2006
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 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 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 The study provides the first data on the frequency of common TPMT variants in the Turkish population, based on analysis of pediatric patients with ALL. 17617792 2007
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 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
Childhood Acute Lymphoblastic Leukemia
0.100 Biomarker disease BEFREE Thus, TPMT does not play a major role in the etiology of secondary malignant neoplasm after treatment for childhood ALL, according to Berlin-Frankfurt-Münster strategies. 19535798 2009
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 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 TPMT genotyping of childhood ALL patients (n = 814) in Germany consecutively enrolled in the ALL-BFM (Berlin-Frankfurt-Münster) 2000 study from October 1999 to September 2002. 15784872 2005
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 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
Childhood Acute Lymphoblastic Leukemia
0.100 GeneticVariation disease BEFREE Six hundred unrelated cord blood samples from 200 Chinese, Malay, and Indian healthy newborns were collected at the National University Hospital, Singapore; an additional 100 children with ALL were analyzed for five of the commonly reported TPMT variant alleles using polymerase chain reaction/restriction fragment length polymorphism and allele-specific polymerase chain reaction-based assays. 12142782 2002
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 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 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 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 level of expression of the enzyme thiopurine methyltransferase (TPMT) is an important determinant of the metabolism of thiopurines used in the treatment of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). 9763570 1998
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 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 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
Childhood Acute Lymphoblastic Leukemia
0.100 AlteredExpression disease BEFREE We investigated the relationships between the TPMT locus (TPMT activity and genotype) and the pharmacological response to 6-MP during maintenance therapy of 78 children with acute lymphoblastic leukemia (ALL). 11681411 2001