The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity

The burden of rare variants in DPYS gene is a novel predictor of the risk of developing severe fluoropyrimidine-related toxicity

Abstract Background Despite a growing number of publications highlighting the potential impact on the therapy outcome, rare genetic variants (minor allele frequency < 1%) in genes associated to drug adsorption, distribution, metabolism, and elimination are poorly studied. Previously, rare germlin...

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Bibliographic Details
Main Authors: Elena De Mattia, Jerry Polesel, Marco Silvestri, Rossana Roncato, Lucia Scarabel, Stefano Calza, Michele Spina, Fabio Puglisi, Giuseppe Toffoli, Erika Cecchin
Format: Article
Language:English
Published: BMC 2023-11-01
Series:Human Genomics
Subjects:
DPYS
Rare variant
Fluoropyrimidine
Toxicity
Next-generation sequencing
Clinical implementation
Online Access:https://doi.org/10.1186/s40246-023-00546-9

Internet

https://doi.org/10.1186/s40246-023-00546-9

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