Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity.
Van Kuilenburg
A B
AB
Academic Medical Center, University of Amsterdam, Department Clinical Chemistry, The Netherlands.
Vreken
P
P
Beex
L V
LV
Meinsma
R
R
Van Lenthe
H
H
De Abreu
R A
RA
Van Gennip
A H
AH
D017398:Alternative Splicing; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000188:drug therapy*; D017024:Chemotherapy, Adjuvant; D042943:Dihydrouracil Dehydrogenase (NADP); D005091:Exons; D005260:Female; D005472:Fluorouracil / Q000008:administration & dosage / Q000009:adverse effects*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D007963:Leukocytes, Mononuclear / Q000201:enzymology; D008875:Middle Aged; D010088:Oxidoreductases / Q000096:biosynthesis / Q000097:blood / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis; D013629:Tamoxifen / Q000008:administration & dosage; D014158:Transcription, Genetic
D012333:RNA, Messenger; D013629:Tamoxifen; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D005472:Fluorouracil