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NM_000110.3(DPYD):c.1905+1G>A

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Interpretation:
drug response​

Review status:
reviewed by expert panel
Submissions:
18 (Most recent: Nov 19, 2018)
Last evaluated:
May 14, 2018
Accession:
VCV000000432.2
Variation ID:
432
Description:
single nucleotide variant
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NM_000110.3(DPYD):c.1905+1G>A

Allele ID
15471
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.3
Genomic location
1: 97450058 (GRCh38) GRCh38 UCSC
1: 97915614 (GRCh37) GRCh37 UCSC
1: 97688202 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.9:g.97688202C>T
NC_000001.10:g.97915614C>T
NC_000001.11:g.97450058C>T
... more HGVS
Protein change
-
Other names
DPYD*2A
IVS14, G-A, +1
Functional consequence
exon loss [Variation Ontology 0381]
PubMed: 8892022
Global minor allele frequency (GMAF)
0.00300 (T)

Allele frequency
1000 Genomes Project 0.00300
The Genome Aggregation Database (gnomAD) 0.00646
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00415
Trans-Omics for Precision Medicine (TOPMed) 0.00280
Links
PharmGKB Clinical Annotation: 827843617
ClinGen: CA114277
OMIM: 612779.0001
dbSNP: rs3918290
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 8892022 Fig. 3 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
drug response 1 reviewed by expert panel May 14, 2018 RCV000660822.1
drug response 1 reviewed by expert panel May 14, 2018 RCV000660823.1
drug response 1 reviewed by expert panel May 14, 2018 RCV000660824.1
drug response 1 reviewed by expert panel May 14, 2018 RCV000660825.1
Pathogenic 4 criteria provided, multiple submitters, no conflicts Jul 24, 2017 RCV000086468.4
Pathogenic 2 criteria provided, single submitter May 4, 2016 RCV000030868.3
Pathogenic 1 criteria provided, single submitter - RCV000735355.1
Conflicting interpretations of pathogenicity 6 criteria provided, conflicting interpretations Apr 19, 2017 RCV000000460.6
Uncertain significance 1 no assertion criteria provided Apr 1, 2015 RCV000201291.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DPYD - - GRCh38
GRCh37
176 235

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
drug response
Drug-variant association: Toxicity/ADR, Metabolism/PK
(May 14, 2018)
reviewed by expert panel
Method: curation
capecitabine response - Toxicity/ADR, Metabolism/PK
Drug used for Neoplasms
Allele origin: germline
PharmGKB
Accession: SCV000783061.1
Submitted: (Jun 18, 2018)
Comment:
Drug is not necessarily used to treat response condition
Evidence details
Publications
PubMed (71)
Other databases
https://www.pharmgkb.org/clini...
Comment:
PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or ... (more)
drug response
Drug-variant association: Toxicity/ADR, Metabolism/PK
(May 14, 2018)
reviewed by expert panel
Method: curation
fluorouracil response - Toxicity/ADR, Metabolism/PK
Drug used for Neoplasms
Allele origin: germline
PharmGKB
Accession: SCV000783062.1
Submitted: (Jun 18, 2018)
Comment:
Drug is not necessarily used to treat response condition
Evidence details
Publications
PubMed (71)
Other databases
https://www.pharmgkb.org/clini...
Comment:
PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or ... (more)
drug response
Drug-variant association: Toxicity/ADR, Metabolism/PK
(May 14, 2018)
reviewed by expert panel
Method: curation
Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK
Drug used for Neoplasms
Allele origin: germline
PharmGKB
Accession: SCV000783063.1
Submitted: (Jun 18, 2018)
Comment:
Drug is not necessarily used to treat response condition
Evidence details
Publications
PubMed (71)
Other databases
https://www.pharmgkb.org/clini...
Comment:
PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or ... (more)
drug response
Drug-variant association: Toxicity/ADR, Metabolism/PK
(May 14, 2018)
reviewed by expert panel
Method: curation
tegafur response - Toxicity/ADR, Metabolism/PK
Drug used for Neoplasms
Allele origin: germline
PharmGKB
Accession: SCV000783064.1
Submitted: (Jun 18, 2018)
Comment:
Drug is not necessarily used to treat response condition
Evidence details
Publications
PubMed (71)
Other databases
https://www.pharmgkb.org/clini...
Comment:
PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or ... (more)
Pathogenic
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dihydropyrimidine Dehydrogenase Deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000359589.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (7)
Comment:
Across a selection of available literature, the c.1905+1G>A variant has been reported in at least 30 patients with dihydropyrimidine dehydrogenase deficiency, including in at least ... (more)
Pathogenic
(Mar 24, 2016)
criteria provided, single submitter
Method: clinical testing
Dihydropyrimidine dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000486085.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(May 04, 2016)
criteria provided, single submitter
Method: clinical testing
5-fluorouracil toxicity
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000594401.1
Submitted: (Jul 05, 2017)
Evidence details
Pathogenic
(May 11, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000610939.1
Submitted: (Oct 05, 2017)
Evidence details
Pathogenic
(Jul 24, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000329338.5
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The c.1905+1G>A pathogenic variant in the DPYD gene has been reported previously in the homozygous state in individuals with variable features of dihydropyrimidine dehydrogenase deficiency, ... (more)
Pathogenic
(Jan 18, 2016)
criteria provided, single submitter
Method: clinical testing
Dihydropyrimidine dehydrogenase deficiency
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000695411.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (4)
Pathogenic
(Dec 22, 2016)
criteria provided, single submitter
Method: clinical testing
Dihydropyrimidine dehydrogenase deficiency
Allele origin: germline
Genome Diagnostics Laboratory,University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743426.1
Submitted: (Apr 17, 2018)
Evidence details
Uncertain significance
(Apr 19, 2017)
criteria provided, single submitter
Method: clinical testing
Dihydropyrimidine dehydrogenase deficiency
Allele origin: germline
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744672.1
Submitted: (Apr 09, 2018)
Evidence details
Pathogenic
(Jun 01, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000225998.5
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (3)
Other databases
http://www.egl-eurofins.com/em...
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
2-3 toe syndactyly
Abnormal aggressive, impulsive or violent behavior
Aggressive behavior
Autistic disorder of childhood onset
Bulbous nose
Clinodactyly of the 5th toe
Coarse facial features
Cognitive impairment
Frontal bossing
Global developmental delay
Hallux valgus
Intellectual disability
Intellectual disability, profound
Macroglossia
Mandibular prognathia
Profound global developmental delay
Seizures
Short toe
Shortening of all phalanges of fingers
Slit-like opening of the exterior auditory meatus
Thick lower lip vermilion
Widely spaced teeth
Allele origin: germline
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles
Accession: SCV000854509.1
Submitted: (Nov 19, 2018)
Evidence details
Pathogenic
(Jan 01, 1999)
no assertion criteria provided
Method: literature only
DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000020609.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (7)
Pathogenic
(Jan 01, 1999)
no assertion criteria provided
Method: literature only
5-@FLUOROURACIL TOXICITY
Allele origin: germline
OMIM
Accession: SCV000020610.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (7)
Uncertain significance
(Apr 01, 2015)
no assertion criteria provided
Method: research
Hirschsprung disease 1
Allele origin: germline
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.
Accession: SCV000222717.1
Submitted: (Apr 30, 2015)
Evidence details
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: unknown
Diasio Lab, Mayo Clinic
Accession: SCV000118634.1
Submitted: (Oct 27, 2009)
Evidence details

Citations for this variant

Title Author Journal Year Link
DPYD*2A and MTHFR C677T predict toxicity and efficacy, respectively, in patients on chemotherapy with 5-fluorouracil for colorectal cancer. Nahid NA Cancer chemotherapy and pharmacology 2018 PMID: 29134491
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency. Henricks LM International journal of cancer 2018 PMID: 28929491
Dihydropyrimidine dehydrogenase pharmacogenetics for predicting fluoropyrimidine-related toxicity in the randomised, phase III adjuvant TOSCA trial in high-risk colon cancer patients. Ruzzo A British journal of cancer 2017 PMID: 29065426
New advances in DPYD genotype and risk of severe toxicity under capecitabine. Etienne-Grimaldi MC PloS one 2017 PMID: 28481884
Quantitative Contribution of rs75017182 to Dihydropyrimidine Dehydrogenase mRNA Splicing and Enzyme Activity. Nie Q Clinical pharmacology and therapeutics 2017 PMID: 28295243
Evaluation of 5-fluorouracil degradation rate and Pharmacogenetic profiling to predict toxicity following adjuvant Capecitabine. Roberto M European journal of clinical pharmacology 2017 PMID: 27864592
Pre-treatment assay of 5-fluorouracil degradation rate (5-FUDR) to improve prediction of 5-fluorouracil toxicity in gastro-esophageal cancer. Borro M Oncotarget 2017 PMID: 27738344
Highlight on DPYD gene polymorphisms and treatment by capecitabine (.). Milano G Scandinavian journal of clinical and laboratory investigation. Supplementum 2016 PMID: 27454530
Pre-treatment evaluation of 5-fluorouracil degradation rate: association of poor and ultra-rapid metabolism with severe toxicity in a colorectal cancer patients cohort. Mazzuca F Oncotarget 2016 PMID: 26967565
DPYD gene polymorphisms are associated with risk and chemotherapy prognosis in pediatric patients with acute lymphoblastic leukemia. Zhao XQ Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2016 PMID: 26846104
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene. Kuilenburg ABPV Biochimica et biophysica acta 2016 PMID: 26804652
DPYD Genotyping to Predict Adverse Events Following Treatment With Fluorouracil-Based Adjuvant Chemotherapy in Patients With Stage III Colon Cancer: A Secondary Analysis of the PETACC-8 Randomized Clinical Trial. Boige V JAMA oncology 2016 PMID: 26794347
Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio. Thomas F Clinical pharmacology and therapeutics 2016 PMID: 26265035
Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction. Gentile G The pharmacogenomics journal 2016 PMID: 26216193
Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data. Meulendijks D The Lancet. Oncology 2015 PMID: 26603945
Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines. Toffoli G International journal of cancer 2015 PMID: 26099996
Germline TYMS genotype is highly predictive in patients with metastatic gastrointestinal malignancies receiving capecitabine-based chemotherapy. Joerger M Cancer chemotherapy and pharmacology 2015 PMID: 25677447
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Zhu X Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25590979
Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity. Froehlich TK International journal of cancer 2015 PMID: 24923815
A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. Rosmarin D Gut 2015 PMID: 24647007
Predicting 5-fluorouracil toxicity: DPD genotype and 5,6-dihydrouracil:uracil ratio. Sistonen J Pharmacogenomics 2014 PMID: 25410891
DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147). Lee AM Journal of the National Cancer Institute 2014 PMID: 25381393
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. Cai X European review for medical and pharmacological sciences 2014 PMID: 24817302
A rare cause of susceptibility to neutropenic sepsis in a patient with metastatic pancreas cancer. Suarez Martinez-Falero B BMJ case reports 2014 PMID: 24700034
Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis. Rosmarin D Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2014 PMID: 24590654
Evaluating predictive pharmacogenetic signatures of adverse events in colorectal cancer patients treated with fluoropyrimidines. Jennings BA PloS one 2013 PMID: 24167597
DPYD IVS14+1G>A and 2846A>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-analysis. Terrazzino S Pharmacogenomics 2013 PMID: 23930673
Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity. Loganayagam A British journal of cancer 2013 PMID: 23736036
Dihydropyrimidine dehydrogenase gene (DPYD) polymorphism among Caucasian and non-Caucasian patients with 5-FU- and capecitabine-related toxicity using full sequencing of DPYD. Saif MW Cancer genomics & proteomics 2013 PMID: 23603345
Fluoropyrimidine toxicity in patients with dihydropyrimidine dehydrogenase splice site variant: the need for further revision of dose and schedule. Magnani E Internal and emergency medicine 2013 PMID: 23585145
Genetic variability & chemotoxicity of 5-fluorouracil & cisplatin in head & neck cancer patients: a preliminary study. Dhawan D The Indian journal of medical research 2013 PMID: 23481061
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity. Borràs E Frontiers in genetics 2013 PMID: 23335937
Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity. Offer SM Cancer research 2013 PMID: 23328581
Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.1905+1G>A mutation in DPYD by means of a Bayesian limited sampling strategy. van Kuilenburg AB Clinical pharmacokinetics 2012 PMID: 22339448
Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. Amstutz U Pharmacogenomics 2011 PMID: 21919607
Relationship between single nucleotide polymorphisms and haplotypes in DPYD and toxicity and efficacy of capecitabine in advanced colorectal cancer. Deenen MJ Clinical cancer research : an official journal of the American Association for Cancer Research 2011 PMID: 21498394
Phase II study of preoperative radiation plus concurrent daily tegafur-uracil (UFT) with leucovorin for locally advanced rectal cancer. Cellier P BMC cancer 2011 PMID: 21410976
Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients. Kristensen MH The Journal of international medical research 2010 PMID: 20819423
Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients. Savva-Bordalo J BMC cancer 2010 PMID: 20809970
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity. van Kuilenburg AB Human genetics 2010 PMID: 20803296
Pharmacogenetic predictors of adverse events and response to chemotherapy in metastatic colorectal cancer: results from North American Gastrointestinal Intergroup Trial N9741. McLeod HL Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010 PMID: 20530282
Investigation of IVS14 + 1G > A polymorphism of DPYD gene in a group of Bosnian patients treated with 5-Fluorouracil and capecitabine. Cerić T Bosnian journal of basic medical sciences 2010 PMID: 20507294
Pharmacogenetic assessment of toxicity and outcome in patients with metastatic colorectal cancer treated with LV5FU2, FOLFOX, and FOLFIRI: FFCD 2000-05. Boige V Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010 PMID: 20385995
The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients. Loganayagam A Cancer chemotherapy and pharmacology 2010 PMID: 19795123
Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer: the FOCUS trial. Braun MS Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009 PMID: 19858398
Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy. Kleibl Z Neoplasma 2009 PMID: 19473056
Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. Gross E PloS one 2008 PMID: 19104657
Pharmacokinetics of 5-fluorouracil in patients heterozygous for the IVS14+1G > A mutation in the dihydropyrimidine dehydrogenase gene. van Kuilenburg AB Nucleosides, nucleotides & nucleic acids 2008 PMID: 18600527
5-Fluorouracil toxicity-attributable IVS14 + 1G > A mutation of the dihydropyrimidine dehydrogenase gene in Polish colorectal cancer patients. Sulzyc-Bielicka V Pharmacological reports : PR 2008 PMID: 18443386
Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group. Schwab M Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008 PMID: 18299612
The influence of fluorouracil outcome parameters on tolerance and efficacy in patients with advanced colorectal cancer. Capitain O The pharmacogenomics journal 2008 PMID: 17700593
Dihydropyrimidine dehydrogenase activity and the IVS14+1G>A mutation in patients developing 5FU-related toxicity. Magné N British journal of clinical pharmacology 2007 PMID: 17335544
Polymorphisms in the thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer. Salgado J Oncology reports 2007 PMID: 17203168
DPYD*2A mutation: the most common mutation associated with DPD deficiency. Saif MW Cancer chemotherapy and pharmacology 2007 PMID: 17165084
5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency. Boisdron-Celle M Cancer letters 2007 PMID: 17064846
Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance. Morel A Molecular cancer therapeutics 2006 PMID: 17121937
Pharmacogenetics of capecitabine in advanced breast cancer patients. Largillier R Clinical cancer research : an official journal of the American Association for Cancer Research 2006 PMID: 17000685
Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients. Ezzeldin HH Clinical cancer research : an official journal of the American Association for Cancer Research 2005 PMID: 16361556
Dihydropyrimidine dehydrogenase deficiency presenting at birth. Al-Sanna'a NA Journal of inherited metabolic disease 2005 PMID: 16151913
5-Fluorouracil/irinotecan induced lethal toxicity as a result of a combined pharmacogenetic syndrome: report of a case. Steiner M Journal of clinical pathology 2005 PMID: 15858133
Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients. Salgueiro N Genetics in medicine : official journal of the American College of Medical Genetics 2004 PMID: 15017333
High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. Van Kuilenburg AB Pharmacogenetics 2002 PMID: 12360106
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. Van Kuilenburg AB International journal of cancer 2002 PMID: 12209976
Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure. van Kuilenburg AB The Biochemical journal 2002 PMID: 11988088
Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene. Maring JG British journal of cancer 2002 PMID: 11953843
Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype. Johnson MR Clinical cancer research : an official journal of the American Association for Cancer Research 2002 PMID: 11895907
Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls. Raida M Clinical cancer research : an official journal of the American Association for Cancer Research 2001 PMID: 11555601
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. van Kuilenburg AB Clinical cancer research : an official journal of the American Association for Cancer Research 2001 PMID: 11350878
Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene. van Kuilenburg AB Clinical cancer research : an official journal of the American Association for Cancer Research 2000 PMID: 11156223
Known variant DPYD alleles do not explain DPD deficiency in cancer patients. Collie-Duguid ES Pharmacogenetics 2000 PMID: 10803677
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Van Kuilenburg AB Human genetics 1999 PMID: 10071185
Dihydropyrimidine dehydrogenase deficiency: a novel mutation and expression of missense mutations in E. coli. Vreken P Journal of inherited metabolic disease 1998 PMID: 9686374
Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity. Van Kuilenburg AB European journal of cancer (Oxford, England : 1990) 1997 PMID: 9470816
Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. Vreken P Human genetics 1997 PMID: 9439663
Partial epilepsy in a girl with a symptom-free sister: first two Finnish patients with dihydropyrimidine dehydrogenase deficiency. Holopainen I Journal of inherited metabolic disease 1997 PMID: 9323575
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency. Vreken P Journal of inherited metabolic disease 1996 PMID: 8892022
Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity. Wei X The Journal of clinical investigation 1996 PMID: 8698850
Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea. Meinsma R DNA and cell biology 1995 PMID: 7832988
Clinical and biochemical findings in six patients with pyrimidine degradation defects. van Gennip AH Journal of inherited metabolic disease 1994 PMID: 8051923
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DPYD - - - -
https://www.pharmgkb.org/clinicalAnnotation/827843617 - - - -

Record last updated Oct 27, 2019