Title : 5-Fluorouracil/irinotecan induced lethal toxicity as a result of a combined pharmacogenetic syndrome: report of a case.

Pub. Date : 2005 May

PMID : 15858133






1 Functional Relationships(s)
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1 A heterozygous G > A transition at the 5" splicing donor consensus sequence in intron 14 leading to exon 14 skipping (IVS14+1 G > A, DPYD*2A) with partial loss of enzyme activity may be partly responsible for 5FU induced toxicity, whereas irinotecan associated toxicity may in part be explained by an aberrant UGT1A1 promoter (TA)(n) genotype underlying Gilbert"s syndrome with reduced liver glucuronidation activity. Fluorouracil UDP glucuronosyltransferase family 1 member A1 Homo sapiens