DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 CausalMutation group CGI
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Although normal activity of DPD was observed in fibroblasts, the DPD activity in leucocytes of the cancer patient proved to be in the heterozygous range. 9470816 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE The role of polymorphisms in specific enzymes, such as thiopurine S-methyltransferases (TPMT), dihydropyrimidine dehydrogenase (DPD), aldehyde dehydrogenases (ALDH), glutathione S-transferases (GST), uridine diphosphate glucuronosyl-transferases (UGTs) and cytochrome P450 (CYP 450) enzymes in cancer therapy are discussed in this review. 9893619 1998
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE DPD activity is highly variable in cancer populations, and this variation may influence the antitumor efficacy of 5-fluorouracil. 10499634 1999
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE A polymorphism that disrupts a putative gamma-interferon response element was identified in a cancer patient with reduced DPD activity and severe 5FU toxicity. 10777676 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Several studies have demonstrated the clinical importance of DPD in cancer patients, suggesting that the efficacy of 5-FU may be related to DPD activity in tumor tissue. 10953310 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE These 10 exons were sequenced in a cohort of cancer patients with reduced (n = 23) or normal (n = 14) DPD activity to determine the contribution of each variant allele to low DPD activity in vivo. 10803677 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE A DPD-deficient phenotype among cancer patients, which has posed a serious problem in 5FU-based chemotherapy, was reported to be in part ascribed to germline mutations in dihydropyrimidine dehydrogenase (DPYD) gene. 11267945 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects. 14635116 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Moreover, breast cancer was characterized by high TS activity and lung cancer by high DPD activity as compared with gastric and colon cancers, and their high activity levels may influence to the effectiveness of 5-fluorouracil against cancers of these organs. 14612954 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE DPD is also responsible for the degradation of 5-fluorouracil (5-FU), which is the most frequently prescribed anticancer drug for the treatment of malignancies of the gastrointestinal tract. 12851836 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Impact of dihydropyrimidine dehydrogenase on 5-fluorouracil treatment in cancer patients. 12844478 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Thymidine phosphorylase (TP), thymidylate synthase (TS) and dihydropyrimidine dehydrogenase (DPD) have been indicated as possible predictive markers for epithelial malignancies. 14702180 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE Methylation was detected in five of five DPD-deficient volunteers and in three of five of the DPD-deficient cancer patient samples. 16361556 2005
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Recently, many clinical studies have demonstrated that UFT is effective for cancer with a low activity of thymidylate synthase (TS) and dihydropyrimidine dehydrogenase (DPD). 15868929 2005
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE This review covers a wide range of techniques available to establish DPD status in patients with cancer. 17241513 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE TPMT, UGT1A1 and DPYD: genotyping to ensure safer cancer therapy? 16815558 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE The Indian cancer patient demonstrated reduced DPD activity (0.11 nmol/min/mg protein) and severe 5-FU toxicities commonly associated with DPD deficiency. 16421754 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 Biomarker group BEFREE The aim of this study was to validate, in a routine clinical setting, a simple and rapid method to determine the DPD status in a subset of cancer patients, all presenting with life-threatening toxicities following 5-FU or capecitabine intake. 17038885 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Deficiency in human DPD is associated with autosomal recessive disease, thymine-uraciluria, and with severe 5-fluorouracil toxicity in cancer patients. 16556484 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Intratumoral DPD mRNA expression level in pancreatic cancer was significantly higher than the other malignancies. 18309485 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE In conclusion, the mRNA expression and protein levels of TS, DPD and OPRT differed according to the type of cancer. 19020767 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE Mutations in DPD-coding gene (DPYD) were shown to increase the risk of severe toxicity in FP-treated cancer patients. 19288105 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 AlteredExpression group BEFREE Expression of TS, DPD and OPRT in cancer tissue has been reported to be associated with sensitivity and/or resistance to 5-FU therapy. 19288006 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.400 GeneticVariation group BEFREE In 400 patients that were diagnosed with cancer and were eligible for 5-FU treatment, 14 patients were found to be heterozygous for the splice-site mutation DPYD IVS14+1G>A, which corresponds to a population frequency of 3.5%. 19822137 2010