Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient.
Journal
Case reports in genetics
ISSN: 2090-6544
Titre abrégé: Case Rep Genet
Pays: United States
ID NLM: 101583302
Informations de publication
Date de publication:
2019
2019
Historique:
received:
17
06
2019
accepted:
15
07
2019
entrez:
19
9
2019
pubmed:
19
9
2019
medline:
19
9
2019
Statut:
epublish
Résumé
Dihydropyrimidine dehydrogenase (DPD) is the major enzyme in the catabolism of 5-Fluorouracil (5-FU) and its prodrug capecitabine. We report a 65-year-old female with rectal adenocarcinoma who experienced severe toxicities secondary to standard dose 5-FU based chemotherapy. She was found to be heterozygous for rs371313778, c.2434G>A. This finding prompted restarting 5-FU at 50% dose reduction with further titration in subsequent cycles. We herein report the first case of rs371313778, c.2434G>A (p.Val812lle)
Identifiants
pubmed: 31531249
doi: 10.1155/2019/5150725
pmc: PMC6720358
doi:
Types de publication
Case Reports
Langues
eng
Pagination
5150725Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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