ClinVar Genomic variation as it relates to human health
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)
Variation ID: 100094 Accession: VCV000100094.36
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 1p21.3 1: 97515865 (GRCh38) [ NCBI UCSC ] 1: 97981421 (GRCh37) [ NCBI UCSC ] 1: 97754009 (NCBI36) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 25, 2014 Apr 15, 2024 Mar 24, 2021 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000110.4:c.1601G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000101.2:p.Ser534Asn missense NC_000001.11:g.97515865C>T NC_000001.10:g.97981421C>T NC_000001.9:g.97754009C>T NG_008807.2:g.410195G>A LRG_722:g.410195G>A LRG_722t1:c.1601G>A LRG_722p1:p.Ser534Asn Q12882:p.Ser534Asn - Protein change
- S534N
- Other names
- -
- Canonical SPDI
- NC_000001.11:97515864:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.00958 (T)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 0.00958
1000 Genomes Project 30x 0.01093
Trans-Omics for Precision Medicine (TOPMed) 0.01325
The Genome Aggregation Database (gnomAD) 0.01380
Exome Aggregation Consortium (ExAC) 0.01416
The Genome Aggregation Database (gnomAD), exomes 0.01470
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01492
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
DPYD | - | - |
GRCh38 GRCh37 |
377 | 490 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
|
Oct 1, 2023 | RCV000086477.20 | |
Benign (1) |
criteria provided, multiple submitters, no conflicts
|
Mar 29, 2016 | RCV000249334.10 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Apr 27, 2017 | RCV000603277.9 | |
drug response (1) |
reviewed by expert panel
|
Mar 24, 2021 | RCV001787909.2 | |
drug response (1) |
reviewed by expert panel
|
Mar 24, 2021 | RCV001787910.2 | |
Benign (1) |
criteria provided, single submitter
|
Feb 21, 2024 | RCV003891587.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
drug response
(Mar 24, 2021)
|
reviewed by expert panel
Method: curation
|
capecitabine response - Toxicity
Drug used for
Neoplasms
Affected status: yes
Allele origin:
germline
|
PharmGKB
Accession: SCV002031267.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
|
|
drug response
(Mar 24, 2021)
|
reviewed by expert panel
Method: curation
|
fluorouracil response - Toxicity
Drug used for
Neoplasms
Affected status: yes
Allele origin:
germline
|
PharmGKB
Accession: SCV002031269.1
First in ClinVar: Dec 12, 2021 Last updated: Dec 12, 2021 |
Comment:
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or … (more)
PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance. (less)
|
|
Benign
(Aug 03, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Dihydropyrimidine dehydrogenase deficiency
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743428.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
|
Likely benign
(Sep 08, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Athena Diagnostics Inc
Accession: SCV000841878.1
First in ClinVar: Feb 25, 2014 Last updated: Feb 25, 2014 |
|
|
Benign
(Mar 29, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000331345.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Number of individuals with the variant: 2
Sex: mixed
|
|
Likely benign
(Mar 26, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000977480.1
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
|
|
Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Dihydropyrimidine dehydrogenase deficiency
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001256862.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
|
|
Benign
(Feb 21, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
DPYD-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000302300.2
First in ClinVar: Oct 02, 2016 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
|
Benign
(Oct 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV000574775.26
First in ClinVar: Feb 25, 2014 Last updated: Apr 15, 2024 |
Comment:
DPYD: BS1, BS2
Number of individuals with the variant: 2
|
|
Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Dihydropyrimidine dehydrogenase deficiency
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000734053.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
|
not provided
(-)
|
no classification provided
Method: not provided
|
not provided
Affected status: not provided
Allele origin:
unknown
|
Diasio Lab, Mayo Clinic
Accession: SCV000118643.1
First in ClinVar: Feb 25, 2014 Last updated: Feb 25, 2014 |
|
|
click to load more click to collapse |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Pharmacogenetic analyses of 2183 patients with advanced colorectal cancer; potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy. | Madi A | European journal of cancer (Oxford, England : 1990) | 2018 | PMID: 30114658 |
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 |
Use of exome sequencing to determine the full profile of genetic variants in the fluoropyrimidine pathway in colorectal cancer patients affected by severe toxicity. | Pellicer M | Pharmacogenomics | 2017 | PMID: 28745575 |
Adjuvant S-1 chemotherapy after curative resection of gastric cancer. | Leung JS | Hong Kong medical journal = Xianggang yi xue za zhi | 2017 | PMID: 28572524 |
New advances in DPYD genotype and risk of severe toxicity under capecitabine. | Etienne-Grimaldi MC | PloS one | 2017 | PMID: 28481884 |
Pretreatment serum uracil concentration as a predictor of severe and fatal fluoropyrimidine-associated toxicity. | Meulendijks D | British journal of cancer | 2017 | PMID: 28427087 |
Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach. | Boisdron-Celle M | Seminars in oncology | 2017 | PMID: 28395758 |
Quantitative Contribution of rs75017182 to Dihydropyrimidine Dehydrogenase mRNA Splicing and Enzyme Activity. | Nie Q | Clinical pharmacology and therapeutics | 2017 | PMID: 28295243 |
Pharmacogenetics of anti-cancer drugs: State of the art and implementation - recommendations of the French National Network of Pharmacogenetics. | Quaranta S | Therapie | 2017 | PMID: 28262261 |
Pharmacogenetics-based personalized therapy: Levels of evidence and recommendations from the French Network of Pharmacogenetics (RNPGx). | Picard N | Therapie | 2017 | PMID: 28237406 |
Pharmacogenetics and Metabolism from Science to Implementation in Clinical Practice: The Example of Dihydropyrimidine Dehydrogenase. | Del Re M | Current pharmaceutical design | 2017 | PMID: 28128059 |
Relevance of dihydropyrimidine-dehydrogenase and thymidylate-synthase in patients with pancreatic neuroendocrine neoplasms treated with 5-FU-based chemotherapy. | Krug S | Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] | 2017 | PMID: 28027897 |
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing. | van Kuilenburg AB | Biochimica et biophysica acta. Molecular basis of disease | 2017 | PMID: 28024938 |
Pharmacogenetic variants associated with outcome in patients with advanced gastric cancer treated with fluoropyrimidine and platinum-based triplet combinations: a pooled analysis of three prospective studies. | Meulendijks D | The pharmacogenomics journal | 2017 | PMID: 27995989 |
Recommendation on testing for dihydropyrimidine dehydrogenase deficiency in the ESMO consensus guidelines for the management of patients with metastatic colorectal cancer. | Deenen MJ | Annals of oncology : official journal of the European Society for Medical Oncology | 2017 | PMID: 27701067 |
Association of genetic variability in enzymes metabolizing chemotherapeutic agents with treatment response in head and neck cancer cases. | Dhawan A | Asia-Pacific journal of clinical oncology | 2017 | PMID: 26792652 |
Revisiting the morbid genome of Mendelian disorders. | Abouelhoda M | Genome biology | 2016 | PMID: 27884173 |
Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines. | Meulendijks D | Cancer chemotherapy and pharmacology | 2016 | PMID: 27544765 |
Highlight on DPYD gene polymorphisms and treatment by capecitabine (.). | Milano G | Scandinavian journal of clinical and laboratory investigation. Supplementum | 2016 | PMID: 27454530 |
Cost-effectiveness of screening for DPYD polymorphisms to prevent neutropenia in cancer patients treated with fluoropyrimidines. | Cortejoso L | Pharmacogenomics | 2016 | PMID: 27248859 |
Fluoropyrimidine and platinum toxicity pharmacogenetics: an umbrella review of systematic reviews and meta-analyses. | Campbell JM | Pharmacogenomics | 2016 | PMID: 26894782 |
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene. | Kuilenburg ABPV | Biochimica et biophysica acta | 2016 | PMID: 26804652 |
Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. | Meulendijks D | International journal of cancer | 2016 | PMID: 26804235 |
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 |
Prospective DPYD genotyping to reduce the risk of fluoropyrimidine-induced severe toxicity: Ready for prime time. | Lunenburg CATC | European journal of cancer (Oxford, England : 1990) | 2016 | PMID: 26716401 |
Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. | Pratt VM | The Journal of molecular diagnostics : JMD | 2016 | PMID: 26621101 |
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 |
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 |
Translating DPYD genotype into DPD phenotype: using the DPYD gene activity score. | Henricks LM | Pharmacogenomics | 2015 | PMID: 26265346 |
Clinical validity of a DPYD-based pharmacogenetic test to predict severe toxicity to fluoropyrimidines. | Toffoli G | International journal of cancer | 2015 | PMID: 26099996 |
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 |
Dihydropyrimidine dehydrogenase 85T>C mutation is associated with ocular toxicity of 5-fluorouracil: a case report. | Baskin Y | American journal of therapeutics | 2015 | PMID: 24434920 |
Predicting 5-fluorouracil toxicity: DPD genotype and 5,6-dihydrouracil:uracil ratio. | Sistonen J | Pharmacogenomics | 2014 | PMID: 25410891 |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. | Tabor HK | American journal of human genetics | 2014 | PMID: 25087612 |
Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. | Offer SM | Cancer research | 2014 | PMID: 24648345 |
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 |
Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing. | Caudle KE | Clinical pharmacology and therapeutics | 2013 | PMID: 23988873 |
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 |
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 |
Gender-specific elimination of continuous-infusional 5-fluorouracil in patients with gastrointestinal malignancies: results from a prospective population pharmacokinetic study. | Mueller F | Cancer chemotherapy and pharmacology | 2013 | PMID: 23139054 |
An informatics approach to analyzing the incidentalome. | Berg JS | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22995991 |
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 |
Carrier testing for severe childhood recessive diseases by next-generation sequencing. | Bell CJ | Science translational medicine | 2011 | PMID: 21228398 |
Dihydropyrimidine dehydrogenase polymorphisms and fluoropyrimidine toxicity: ready for routine clinical application within personalized medicine? | Del Re M | The EPMA journal | 2010 | PMID: 23199091 |
A map of human genome variation from population-scale sequencing. | 1000 Genomes Project Consortium | Nature | 2010 | PMID: 20981092 |
Routine dihydropyrimidine dehydrogenase testing for anticipating 5-fluorouracil-related severe toxicities: hype or hope? | Ciccolini J | Clinical colorectal cancer | 2010 | PMID: 20920994 |
Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: a haplotype assessment. | Amstutz U | Pharmacogenomics | 2009 | PMID: 19530960 |
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 |
Cardiotoxicity of 5-fluorouracil and capecitabine in a pancreatic cancer patient with a novel mutation in the dihydropyrimidine dehydrogenase gene. | Shahrokni A | JOP : Journal of the pancreas | 2009 | PMID: 19287123 |
The dihydrouracil/uracil ratio in plasma, clinical and genetic analysis for screening of dihydropyrimidine dehydrogenase deficiency in colorectal cancer patients treated with 5-fluorouracil. | Ben Fredj R | Pathologie-biologie | 2009 | PMID: 18619742 |
Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients. | Gross E | PloS one | 2008 | PMID: 19104657 |
Hypermethylation of the DPYD promoter region is not a major predictor of severe toxicity in 5-fluorouracil based chemotherapy. | Amstutz U | Journal of experimental & clinical cancer research : CR | 2008 | PMID: 18937829 |
Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in Chinese cancer patients. | He YF | Journal of clinical pharmacy and therapeutics | 2008 | PMID: 18452418 |
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 |
Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis. | Sellick GS | Blood | 2008 | PMID: 18006695 |
Insights into the role of heritable genetic variation in the pharmacokinetics and pharmacodynamics of anticancer drugs. | Pander J | Expert opinion on pharmacotherapy | 2007 | PMID: 17563256 |
Identification of a novel mutation in the dihydropyrimidine dehydrogenase gene in a patient with a lethal outcome following 5-fluorouracil administration and the determination of its frequency in a population of 500 patients with colorectal carcinoma. | Morel A | Clinical biochemistry | 2007 | PMID: 17046731 |
Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals. | Seck K | Clinical cancer research : an official journal of the American Association for Cancer Research | 2005 | PMID: 16115930 |
Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant. | Lazar A | Onkologie | 2004 | PMID: 15591715 |
Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects. | Gross E | Human mutation | 2003 | PMID: 14635116 |
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 |
A comparative analysis of translated dihydropyrimidine dehydrogenase cDNA; conservation of functional domains and relevance to genetic polymorphisms. | Mattison LK | Pharmacogenetics | 2002 | PMID: 11875367 |
Known variant DPYD alleles do not explain DPD deficiency in cancer patients. | Collie-Duguid ES | Pharmacogenetics | 2000 | PMID: 10803677 |
Inherited variations in drug-metabolizing enzymes: significance in clinical oncology. | Iyer L | Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology | 1999 | PMID: 10671643 |
Characterization of the human dihydropyrimidine dehydrogenase gene. | Wei X | Genomics | 1998 | PMID: 9721209 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DPYD | - | - | - | - |
https://www.pharmgkb.org/clinicalAnnotation/1451286326 | - | - | - | - |
https://www.pharmgkb.org/clinicalAnnotation/981201946 | - | - | - | - |
https://www.pharmgkb.org/variant/PA166153645 | - | - | - | - |
click to load more click to collapse |
Text-mined citations for rs1801158 ...
HelpRecord last updated Apr 15, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.