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تعداد آیتم قابل مشاهده باقیمانده : -5 مورد

DPYD and TYMS mutations associated with increased risk of fluoropyrimidine toxicity

DPYD and TYMS mutations associated with increased risk of fluoropyrimidine toxicity
  Alternative names Allele Predicted consequence in patients receiving FU
DPYD variants
DPYD*13 c.1679T>G (rs55886062) –
  • Abolished DPD activity (homozygotes)
  • Greatly increased toxicity risk
DPYD*2A c.1905+1G>A (rs3918290) –
  • Abolished DPD activity (homozygotes)
  • Greatly increased toxicity risk
DPYD*9B c.2846A>T (rs67376798) –
  • Decreased DPD activity
  • Increased toxicity risk
HapB3 collection of SNPs c.483+18GG>A, c.680+139G>A, and c.959-51T>C c.1236G>A occurring in complete linkage with c.1129-5923C>G –
  • Modest decrease in DPD
  • Increased toxicity risk
DPYD p.Y186C
 c.557A>G –
  • Identified in individuals of African ancestry
  • Decreased DPD activity
  • Increased toxicity risk
TYMS variants
3'-UTR
  • 6 bp deletion (TTAAAG) (rs34489327; historically rs16430)
 – Deletion
  • Decreased TYMS expression
  • Increased FU responsiveness
  • Increased risk of toxicity
5'-TSER
  • 28 bp VNTR (2R; 3R) (rs45445694)
  • G>C SNP in 2nd repeat of 3R allele (3RC) (rs34743033)
 – 2R 2R/2R or 2R/3RC:
  • Decreased TYMS expression
  • Increased FU responsiveness
  • Increased risk of toxicity
– 3RC 3RC/3RC or 2R/3RC:
  • Decreased TYMS expression
  • Increased FU responsiveness
  • Increased risk of toxicity
bp: base pair; DPD: dihydropyrimidine dehydrogenase; DPYD: gene for dihydropyrimidine dehydrogenase; FU: fluorouracil; SNP: single-nucleotide polymorphism; TSER: promoter enhancer region of TYMS; TYMS: gene for thymidylate synthetase; UTR: untranslated region; VNTR: variable number of 28 base bp tandem repeats.
Graphic 109665 Version 5.0