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Two cases of 5-fluo...
Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene.
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- Arkblad, Eva L (författare)
- Sahlgrens University Hospital
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- Skrtic, Stanko, 1970 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för klinisk prövning och entreprenörskap,Institute of Medicine, Department of Clinical Trials and Entrepreneurship,Sahlgrens University Hospital
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- Albertsson, Per, 1956 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine,Sahlgrens University Hospital
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- Shubbar, Emman, 1974 (författare)
- Sahlgrens University Hospital
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- Enerbäck, Charlotta, 1965 (författare)
- Linköpings universitet,Östergötlands Läns Landsting,Hudkliniken i Östergötland,Hälsouniversitetet,Cellbiologi
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- Ofverholm, Anna (författare)
- Sahlgrens University Hospital
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(creator_code:org_t)
- Elsevier BV, 2010
- 2010
- Engelska.
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Ingår i: Clinical biochemistry. - : Elsevier BV. - 1873-2933 .- 0009-9120. ; 43:3, s. 331-4
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Abstract
Ämnesord
Stäng
- 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 polymorphism (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+1G>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.1796T>C (p.M599T). In the second case, we observed heterozygosity for the splice-site mutation DPYD IVS14+17A>G. CONCLUSIONS: We report two new DPYD gene variants, of which DPYD c.1796T>C is potentially pathogenic, whereas DPYD IVS14+17A>G is suggested as a variant without clinical significance.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Kardiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cardiac and Cardiovascular Systems (hsv//eng)
Nyckelord
- Aged
- Antimetabolites
- Antineoplastic
- adverse effects
- metabolism
- therapeutic use
- Dihydrouracil Dehydrogenase (NADP)
- genetics
- metabolism
- Female
- Fluorouracil
- adverse effects
- metabolism
- therapeutic use
- Genetic Variation
- Humans
- Mutation
- Neoplasms
- drug therapy
- Polymorphism
- Restriction Fragment Length
- Sequence Analysis
- DNA
- Dihydropyrimidine dehydrogenase
- MEDICINE
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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