Article
Rapid detection of the DPYD IVS14+1G>A mutation for screening patients to prevent fluorouracil-related toxicity.
Molecular diagnosis & therapy - 1 Jan 2007
Bosch Tessa M, Bakker Remko, Schellens Jan H M, Cats Annemieke, Smits Paul H M, Beijnen Jos H
Abstract excerpt
BACKGROUND: Deficiency of dihydropyrimidine dehydrogenase (DPD) has been linked to severe or lethal fluorouracil (FU)-related toxicity. The most prominent mutation in the DPYD gene is the IVS14+1G>A mutation, which causes skipping of exon 14 in the messenger RNA (mRNA) and results in DPD enzyme deficiency. Several methods have been described to detect this mutation, but all are labor intensive and low throughput....
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