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Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene.

Artikel i vetenskaplig tidskrift
Författare Anna Ofverholm
Eva L Arkblad
Stanko Skrtic
Per Albertsson
Emman Shubbar
Charlotta Enerbäck
Publicerad i Clinical biochemistry
Volym 43
Nummer/häfte 3
Sidor 331-4
ISSN 1873-2933
Publiceringsår 2010
Publicerad vid Institutionen för medicin, avdelningen för klinisk prövning och entreprenörskap
Institutionen för medicin, avdelningen för molekylär och klinisk medicin
Sidor 331-4
Språk en
Länkar dx.doi.org/10.1016/j.clinbiochem.20...
Ämnesord 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
Ämneskategorier Kardiologi

Sammanfattning

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.

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