Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity.

No abstract is available for this paper.

• Publication year

  1997

• Venue

  European Journal of Cancer

• Publication date

  1997-04-01

• Fields of study

  Biology, Medicine, Chemistry

• Identifiers
  DOI 10.1016/S0959-8049(97)00261-XPMID 9470816
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• UvA-DARE ( Digital Academic Repository ) Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene

  1997cited by this paper
• Identification and tissue-specific expression of a NADH-dependent activity of dihydropyrimidine dehydrogenase in man.

  1996cited by this paper
• Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.

  1996influential reference
• A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

  1996cited by this paper
• Severe 5-fluorouracil toxicity possibly secondary to dihydropyrimidine dehydrogenase deficiency in a breast cancer patient with osteogenesis imperfecta.

  1996cited by this paper
• Human Polymorphism in Drug Metabolism: Mutation in the Dihydropyrimidine Dehydrogenase Gene Results in Exon Skipping and Thymine Uracilurea

  1995cited by this paper
• Combined deficiencies of NADPH- and NADH-dependent dihydropyrimidine dehydrogenases, a new finding in a family with thymine-uraciluria

  1995cited by this paper
• Depressed hepatic dihydropyrimidine dehydrogenase activity and fluorouracil-related toxicities.

  1995cited by this paper
• Correlation between catalytic activity and protein content for the polymorphically expressed dihydropyrimidine dehydrogenase in human lymphocytes.

  1995cited by this paper
• Dihydropyrimidine dehydrogenase (DPD) and clinical pharmacology of 5-fluorouracil (review).

  1994cited by this paper
• Potential importance of dihydropyrimidine dehydrogenase (DPD) in cancer chemotherapy.

  1994cited by this paper
• [Population study of dihydropyrimidine dehydrogenase in cancer patients].

  1994cited by this paper
• Population study of dihydropyrimidine dehydrogenase in cancer patients.

  1994cited by this paper
• Clinical and biochemical findings in six patients with pyrimidine degradation defects

  1994cited by this paper
• cDNA cloning and chromosome mapping of human dihydropyrimidine dehydrogenase, an enzyme associated with 5-fluorouracil toxicity and congenital thymine uraciluria.

  1994cited by this paper
• Dihydropyrimidine dehydrogenase activity in human peripheral blood mononuclear cells and liver: population characteristics, newly identified deficient patients, and clinical implication in 5-fluorouracil chemotherapy.

  1993cited by this paper
• Dihydropyrimidine dehydrogenase activity in cancer patients.

  1993cited by this paper
• Clinical Cardiotoxicity of 5‐Fluorouracil

  1993cited by this paper
• Severe fluorouracil toxicity in a patient with dihydropyrimidine dehydrogenase deficiency.

  1993cited by this paper
• Severe 5-fluorouracil toxicity in a patient with decreased dihydropyrimidine dehydrogenase activity.

  1993cited by this paper
• 5-Ethynyluracil (776C85): inactivation of dihydropyrimidine dehydrogenase in vivo.

  1993cited by this paper
• Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation.

  1993cited by this paper
• Pigmentary Effects from the Protracted Infusion of 5‐Fluorouracil

  1991cited by this paper
• Inhibition of fluoropyrimidine catabolism by benzyloxybenzyluracil. Possible relevance to regional chemotherapy.

  1991cited by this paper
• Severe 5‐fluorouracil toxicity secondary to dihydropyrimidine dehydrogenase deficiency. A potentially more common pharmacogenetic syndrome

  1991cited by this paper
• Reversal of enzymic phenotype of thymidine metabolism in induced differentiation of U-937 cells.

  1989cited by this paper
• Reversal of enzymic phenotype of thymidine metabolism in induced differentiation of HL-60 cells.

  1989cited by this paper
• 5‐Fluorouracil‐associated cardiotoxicity

  1988cited by this paper
• Enhancing effect of bromovinyldeoxyuridine on antitumor activity of 5-fluorouracil against adenocarcinoma 755 in mice. Increased therapeutic index and correlation with increased plasma 5-fluorouracil levels.

  1988cited by this paper
• Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity.

  1988cited by this paper
• Molecular diagnosis.

  1987cited by this paper
• Clinical pharmacokinetics of 5-fluorouracil and its metabolites in plasma, urine, and bile.

  1987cited by this paper
• Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.

  1987cited by this paper
• Distribution and inhibition of dihydrouracil dehydrogenase activities in human tissues using 5-fluorouracil as a substrate.

  1986cited by this paper
• Familial pyrimidinemia and pyrimidinuria associated with severe fluorouracil toxicity.

  1985cited by this paper
• Enzymes of uracil catabolism in normal and neoplastic human tissues.

  1985cited by this paper
• Measurement of protein using bicinchoninic acid.

  1985cited by this paper
• Elevated urine, blood and cerebrospinal fluid levels of uracil and thymine in a child with dihydrothymine dehydrogenase deficiency.

  1984cited by this paper
• Variation in lysosomal enzyme activity during growth in culture of human fibroblasts and amniotic fluid cells.

  1976cited by this paper
• Dihydrouracil dehydrogenase activity in normal, differentiating and regnerating liver and in hepatomas.

  1971cited by this paper

• Implementing Pre‐Emptive Pharmacogenetics: Impact of Early Pharmacogenetic Screening in a Pediatric Oncology Cohort of 1,151 Subjects

  2025cites this paper
• Review of Neurologic and Developmental Conditions Associated with Pediatric Dihydropyrimidine Dehydrogenase Deficiency

  2024cites this paper
• Improving single nucleotide polymorphisms genotyping accuracy for dihydropyrimidine dehydrogenase testing in pharmacogenetics

  2024cites this paper
• Pharmacogenomics and Personalized Medicine

  2024cites this paper
• Implementation of upfront DPYD genotyping with a low-cost and high-throughput assay to guide fluoropyrimidine treatment in cancer patients

  2023cites this paper
• Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy

  2022cites this paper
• Pharmacogenetics of Drugs Used in the Treatment of Cancers

  2022cites this paper
• Upfront DPYD Genotyping and Toxicity Associated with Fluoropyrimidine-Based Concurrent Chemoradiotherapy for Oropharyngeal Carcinomas: A Work in Progress

  2022cites this paper
• Current diagnostic and clinical issues of screening for dihydropyrimidine dehydrogenase deficiency.

  2022cites this paper
• Importance of Rare DPYD Genetic Polymorphisms for 5-Fluorouracil Therapy in the Japanese Population

  2022cites this paper
• Consensus of experts from the Spanish Pharmacogenetics and Pharmacogenomics Society and the Spanish Society of Medical Oncology for the genotyping of DPYD in cancer patients who are candidates for treatment with fluoropyrimidines

  2021cites this paper
• Pharmacogenomics of Antitumor Chemotherapeutic Agents

  2020cites this paper
• Pharmacogenomics in Precision Medicine: From a Perspective of Ethnic Differences

  2020cites this paper
• Designing clinical studies for biomarker discovery: The Design criteria

  2020cites this paper
• Pharmacogenetic profiling of dihydropyrimidine dehydrogenase (DPYD) variants in the Indian population

  2020cites this paper
• Challenges and solutions in patient treatment strategies for stage II colon cancer

  2019cites this paper
• Tailored therapy in patients treated with fluoropyrimidines: focus on the role of dihydropyrimidine dehydrogenase

  2019cites this paper
• Principles of Pharmacogenomics

  2019cites this paper
• Successful use of uridine triacetate (Vistogard) three weeks after capecitabine in a patient with homozygous dihydropyrimidine dehydrogenase mutation: A case report and review of the literature

  2019cites this paper
• SNPs in predicting clinical efficacy and toxicity of chemotherapy: walking through the quicksand

  2018cites this paper
• Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update

  2018cites this paper
• DPYD genotype-guided dose individualization to improve patient safety of fluoropyrimidine therapy: call for a drug label update

  2017cites this paper
• Cancer predisposition syndromes: lessons for truly precision medicine

  2017cites this paper
• Characterization of a Rare Nonpathogenic Sequence Variant (c.1905C>T) of the Dihydropyrimidine Dehydrogenase Gene (DPYD)

  2017cites this paper
• Integrating Genomics into Drug Discovery and Development: Challenges and Aspirations

  2017cites this paper
• Strategies to design clinical studies to identify predictive biomarkers in cancer research.

  2017cites this paper
• DPYD*2A and MTHFR C677T predict toxicity and efficacy, respectively, in patients on chemotherapy with 5-fluorouracil for colorectal cancer

  2017cites this paper
• Pharmacogenomics DNA Biomarkers in Colorectal Cancer: Current Update

  2017cites this paper
• Pharmacogenetics driving personalized medicine: analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations

  2016cites this paper
• Complications from pharmacotherapy.

  2016cites this paper
• Near fatal 5-FU gut toxicity post surgery – remarkable effect of high-dose sucralfate

  2015cites this paper
• Association and prediction of severe 5-fluorouracil toxicity with dihydropyrimidine dehydrogenase gene polymorphisms: A meta-analysis.

  2015cites this paper
• How folate metabolism affects colorectal cancer development and treatment; a story of heterogeneity and pleiotropy.

  2015cites this paper
• Translating DPYD genotype into DPD phenotype: using the DPYD gene activity score.

  2015cites this paper
• Dihydropyrimidine Dehydrogenase 85T>C Mutation Is Associated With Ocular Toxicity of 5-Fluorouracil: A Case Report

  2015cites this paper
• DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147).

  2014cites this paper
• Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis.

  2014cites this paper
• The role of IVS14+1 G > A genotype detection in the dihydropyrimidine dehydrogenase gene and pharmacokinetic monitoring of 5-fluorouracil in the individualized adjustment of 5-fluorouracil for patients with local advanced and metastatic colorectal cancer: a preliminary report.

  2014cites this paper
• Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early‐onset fluoropyrimidine toxicity

  2014cites this paper
• Fluoropyrimidine toxicity in patients with dihydropyrimidine dehydrogenase splice site variant: the need for further revision of dose and schedule

  2013cites this paper
• Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity

  2013cites this paper
• Clinical Pharmacogenetics Implementation Consortium Guidelines for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing

  2013cites this paper
• Screening of Dihydropyrimidine Dehydrogenase Genetic Variants by Direct Sequencing in Different Ethnic Groups

  2013cites this paper
• Principles of pharmacogenomics: Pharmacokinetic, pharmacodynamic, and clinical implications

  2013cites this paper
• Oral Chemotherapeutic Agents

  2012cites this paper
• Germline genetic testing to predict drug response and toxicity in oncology--reality or fiction?

  2011cites this paper
• Part 2: pharmacogenetic variability in drug transport and phase I anticancer drug metabolism.

  2011cites this paper
• Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity.

  2011cites this paper
• Pharmacogenomics of drug metabolizing enzymes and transporters: implications for cancer therapy

  2011cites this paper
• Relationship between Single Nucleotide Polymorphisms and Haplotypes in DPYD and Toxicity and Efficacy of Capecitabine in Advanced Colorectal Cancer

  2011cites this paper
• Individualization of 5-Fluorouracil in the Treatment of Colorectal Cancer

  2010cites this paper
• Selection of extreme phenotypes: the role of clinical observation in translational research

  2010cites this paper
• Routine dihydropyrimidine dehydrogenase testing for anticipating 5-fluorouracil-related severe toxicities: hype or hope?

  2010cites this paper
• Molecular determinants of efficacy for 5‐FU‐based treatments in advanced colorectal cancer: mRNA expression for 18 chemotherapy‐related genes

  2009cites this paper
• Unanticipated toxicity to capecitabine.

  2009cites this paper
• Hand-foot Syndrome Following Capecitabine (Xeloda®) Monotherapy for Colorectal Cancer

  2009cites this paper
• Monotherapy for Colorectal Cancer

  2009cites this paper
• Lymph node staging in colon cancer

  2008cites this paper
• 5-Fluorouracil toxicity-attributable IVS14 + 1G > A mutation of the dihydropyrimidine dehydrogenase gene in Polish colorectal cancer patients.

  2008cites this paper
• Pathway based analysis of SNPs with relevance to 5‐FU therapy: Relation to intratumoral mRNA expression and survival

  2008cites this paper
• Analysis of the DPYD gene implicated in 5‐fluorouracil catabolism in Chinese cancer patients

  2008cites this paper
• Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment

  2008cites this paper
• Colorectal cancer therapeutics and the challenges of applied pharmacogenomics.

  2007cites this paper
• Toxicity Profile and Efficacy of Oral Capecitabine as Adjuvant Chemotherapy for Chinese Patients with Stage III Colon Cancer

  2007cites this paper
• Prediction of efficacy and side effects of chemotherapy in colorectal cancer.

  2007cites this paper
• Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population.

  2007cites this paper
• Possible Associations of Splice Site Mutation of Dihydropyrimidine Dehydrogenase (IVS14+1G>A) in Adverse Drug Reactions in Some Invasive Ductal Carcinoma Patients

  2007cites this paper
• Pharmacogenetic screening of docetaxel, irinotecan and fluoropyrimidines in cancer therapy

  2006cites this paper
• Pharmacogenomics and colorectal cancer.

  2006cites this paper
• Pharmacogenetics, Drug-Metabolizing Enzymes, and Clinical Practice

  2006cites this paper
• Genetic Polymorphisms of Drug-Metabolising Enzymes and Drug Transporters in the Chemotherapeutic Treatment of Cancer

  2006cites this paper
• How may Anticancer Chemotherapy with Fluorouracil be Individualised?

  2006cites this paper
• Thymidylate synthase, dihydropyrimidine dehydrogenase and thymidine phosphorylase expression in colorectal cancer and normal mucosa in patients

  2006cites this paper
• Effects of 5-fluorouracil adjuvant treatment of colon cancer

  2006cites this paper
• Relation between cytokine promoter gene polymorphism and toxicity of 5-fluorouracil plus cisplatin chemotherapy.

  2006cites this paper
• Chemical Diagnosis of Inborn Errors of Metabolism and Metabolome Analysis of Urine by Capillary Gas Chromatography/Mass Spectrometry

  2005cites this paper
• Predicting drug response and toxicity based on gene polymorphisms.

  2005cites this paper
• Analysis of the DPYD Gene Implicated in 5-Fluorouracil Catabolism in a Cohort of Caucasian Individuals

  2005cites this paper
• Individualized chemotherapy based on genetic and genomic profiling

  2005cites this paper
• [Molecular biology in clinical cancer research: the example of digestive cancers].

  2005cites this paper
• Pharmacokinetic variability of anticancer agents

  2005cites this paper
• Apport de la biologie moléculaire dans la recherche clinique en cancérologie : exemple des cancers digestifs

  2005cites this paper
• Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil.

  2004cites this paper
• Severe Abdominal Pain and Diarrhea in an Elderly Woman Receiving Chemotherapy for Colon Cancer

  2004cites this paper
• Pharmacogenomics and colorectal cancer.

  2004cites this paper
• Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients

  2004cites this paper
• Polymorphisms in Genes of Drug Targets and Metabolism and in DNA Repair

  2004cites this paper
• Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil.

  2004cites this paper
• Pharmacogenetic aspects in treatment of colorectal cancer--an update.

  2003cites this paper
• Tailoring chemotherapy in advanced colorectal cancer.

  2003cites this paper
• Dihydropyrimidine Dehydrogenase and Treatment by Fluoropyrimidines

  2003cites this paper
• Extensive hepatic replacement due to liver metastases has no effect on 5-fluorouracil pharmacokinetics

  2003cites this paper
• Implications of Genetic Testing in the Management of Colorectal Cancer

  2003cites this paper
• Clinical implications of dihydropyrimidine dehydrogenase (DPD) activity in 5-FU-based chemotherapy: mutations in the DPD gene, and DPD inhibitory fluoropyrimidines

  2003cites this paper
• Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry.

  2002cites this paper
• Mutationen im Dihydropyrimidindehydrogenase-Gen als Ursache von 5-Fluororuracil-Intoleranz

  2002cites this paper
• Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene

  2002cites this paper
• Increased risk of grade IV neutropenia after administration of 5‐fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: High prevalence of the IVS14+1g>a mutation

  2002cites this paper
• The Effect of Dihydropyrimidine Dehydrogenase Deficiency on Outcomes with Fluorouracil

  2002cites this paper
• Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency.

  2001cites this paper