Titre :

Genotyping of a family with a novel deleterious dpyd mutation supports the pretherapeutic screening of dpd deficiency with dihydrouracil/uracil ratio

Auteur(s) :

Thomas, F. [Auteur]
Hennebelle, I. [Auteur]
Delmas, C. [Auteur]
Lochon, I. [Auteur]
Dhelens, C. [Auteur]
Tixidre, C. Garnier [Auteur]
Bonadona, Agnes [Auteur]
Penel, Nicolas [Auteur]
Evaluation des technologies de santé et des pratiques médicales - ULR 2694 [METRICS]
METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694
Goncalves, Anthony [Auteur]
Delord, J. P. [Auteur]
Toulas, C. [Auteur]
Chatelut, E. [Auteur]

Titre de la revue :

Clinical pharmacology and therapeutics

Nom court de la revue :

Clin. Pharmacol. Ther.

Numéro :

99

Pagination :

235-242

Date de publication :

2016-02-01

ISSN :

0009-9236

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Despite the growing evidence that dihydropyrimidine dehydrogenase deficiency (DPD, encoded by the DPYD gene) confers a higher risk of developing severe toxicity, most patients are not screened for DPD deficiency before ...
Lire la suite >Despite the growing evidence that dihydropyrimidine dehydrogenase deficiency (DPD, encoded by the DPYD gene) confers a higher risk of developing severe toxicity, most patients are not screened for DPD deficiency before fluoropyrimidine treatment. We report here the genetic and phenotypic analyses of DPD in a family related to a patient who died after a first cycle of 5-fluorouracil and in 15 additional retrospective patients having a partial DPD deficiency (as measured by plasma dihydrouracil/uracil ratio). The patient with lethal toxicity was found to be a compound heterozygote for two DPYD mutations: a novel 8-bp duplication (c.168_175dupGAATAATT, p.Phe59Ter) and c.1679T>G (Ile560Ser). The patient's dihydrouracil/uracil ratio indicates complete DPD deficiency. The novel mutation was found in two members of the patient's family. Deleterious DPYD mutations were identified in 9 out of the 15 patients. The relationship between genotype and dihydrouracil/uracil values in the 22 patients of the present study was significant (P = 0.01).Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

CHU Lille
Université de Lille

Collections :

• METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694

Date de dépôt :

2019-12-09T16:52:30Z