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Article

Use of exome sequencing to determine the full profile of genetic variants in the fluoropyrimidine pathway in colorectal cancer patients affected by severe toxicity.

Pharmacogenomics - 1 Aug 2017

Pellicer Marta, García-González Xandra, García María I, Blanco Carolina, García-Alfonso Pilar, Robles Luis, Grávalos Cristina, Rueda Daniel, Martínez Joaquín, Pachón Vanessa, Longo Federico, Martínez Virginia, Iglesias Irene, Salvador Sara, Sanjurjo María, López-Fernández Luis A

Abstract excerpt

AIM: To identify genetic variants associated with capecitabine toxicity in fluoropyrimidine pathway genes using exome sequencing. PATIENTS & METHODS: Exomes from eight capecitabine-treated patients with severe adverse reactions (grade >2), among a population of 319, were sequenced (Ion Proton). SNPs in genes classified as potentially damaging (Sorting Intolerant from Tolerant and Polymorphism Phenotyping v2) were...

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Source

Identifiers

PMID: 28745575
DOI: 10.2217/pgs-2017-0118

Genes

DPYD
MTHFR
ABCC4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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