Implementing DPYD*2A Genotyping in Clinical Practice: The Quebec, Canada, Experience.

ABSTRACT:

Background

Fluoropyrimidines are used in chemotherapy combinations for multiple cancers. Deficient dihydropyrimidine dehydrogenase activity can lead to severe life-threatening toxicities. DPYD*2A polymorphism is one of the most studied variants. The study objective was to document the impact of implementing this test in routine clinical practice.

Methods

We retrospectively performed chart reviews of all patients who tested positive for a heterozygous or homozygous DPYD*2A mutation in samples obtained from patients throughout the province of Quebec, Canada.

Results

During a period of 17 months, 2,617 patients were tested: 25 patients tested positive. All were White. Twenty-four of the 25 patients were heterozygous (0.92%), and one was homozygous (0.038%). Data were ava

SUBMITTER: Jolivet C 

PROVIDER: S-EPMC8018309 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature