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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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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) –
  • Decreased DPD activity
  • 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
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
DPYD: gene for dihydropyrimidine dehydrogenase; TYMS: gene for thymidylate synthetase; FU: fluorouracil; DPD: dihydropyrimidine dehydrogenase; SNP: single-nucleotide polymorphism; UTR: untranslated region; bp: base pair; TSER: promoter enhancer region of TYMS; VNTR: variable number of 28 base bp tandem repeats.
* Clinicians should be aware that many laboratories restrict DPYD testing to the DPYD*2A variant.
Graphic 109665 Version 4.0

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