liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene
Sahlgrens University Hospital.
Sahlgrens University Hospital.
Sahlgrens University Hospital.
Sahlgrens University Hospital.
Show others and affiliations
2010 (English)In: CLINICAL BIOCHEMISTRY, ISSN 0009-9120, Vol. 43, no 3, 331-334 p.Article in journal (Refereed) Published
Abstract [en]

Objectives: Dihydropyrimidine dehydrogenase (DPD) is the initial rate-limiting enzyme in endogenous pyrimidine catabolism and is responsible for the reduction of the pyrimidine analog 5-fluorouracil (5-FU). DPD deficiency is known to cause potentially lethal toxicity in patients receiving 5-FU. We here report a frequency analysis of one of the major splice-site mutations in the DPDY gene, and further two new DPYD gene variants. Design and methods: Restriction fragment length polymorphisin (RFLP) and DNA sequence analysis were performed on genomic DNA and mRNA. Results: 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+1Gandgt;A, which corresponds to a population frequency of 3.5%. Two novel variants in the DPYD gene were identified. The first case was heterozygous for DPYD c. 1796Tandgt;C (p.M599T). In the second case, we observed heterozygosity for the splice-site mutation DPYD IVS14+17Aandgt;G. Conclusions: We report two new DPYD gene variants, of which DPYD c. 1796Tandgt;C is potentially pathogenic, whereas DPYD IVS14+17Aandgt;G is suggested as a variant without clinical significance.

Place, publisher, year, edition, pages
2010. Vol. 43, no 3, 331-334 p.
Keyword [en]
Dihydropyrimidine dehydrogenase, DPYD, 5-fluorouracil, Toxicity, Colon cancer
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-54076DOI: 10.1016/j.clinbiochem.2009.09.024ISI: 000274104000021OAI: oai:DiVA.org:liu-54076DiVA: diva2:298292
Note

Original Publication: Anna Ofverholm, Eva Arkblad, Stanko Skrtic, Per Albertsson, Emman Shubbar and Charlotta Enerbäck, Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene, 2010, CLINICAL BIOCHEMISTRY, (43), 3, 331-334. http://dx.doi.org/10.1016/j.clinbiochem.2009.09.024 Copyright: Elsevier Science B.V., Amsterdam. http://www.elsevier.com/

Available from: 2010-02-22 Created: 2010-02-22 Last updated: 2013-04-02

Open Access in DiVA

fulltext(239 kB)1143 downloads
File information
File name FULLTEXT01.pdfFile size 239 kBChecksum SHA-512
44d342571d8db874db067eef3724d4b7e22e17cdc47493c2bf1fa343b713d4b201c13453be78e90e9cd32815d3eff80c0801522ec2dfa25f6fc51f5b74f4a248
Type fulltextMimetype application/pdf

Other links

Publisher's full text

Authority records BETA

Enerbäck, Charlotta

Search in DiVA

By author/editor
Enerbäck, Charlotta
By organisation
Department of Dermatology and Venerology in ÖstergötlandFaculty of Health SciencesCell Biology
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
Total: 1143 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

doi
urn-nbn

Altmetric score

doi
urn-nbn
Total: 129 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf