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Article

Opportunistic analysis of clinically actionable DPYD gene variants in a germline testing cohort in India.

Pharmacogenomics - 1 Jan 2025

Raha Rajdeep, Bhoyar Rahul C, Biswal Ranendra Pratap, Venkatakrishnan Radhika, Rai Prashant, Umashankar Eshaa, Kulkarni Pooja Mahesh, Sivasubbu Sridhar, Scaria Vinod, Jolly Bani

Abstract excerpt

AIMS: Dihydropyrimidine dehydrogenase (DPYD) plays a critical role in the metabolism of fluoropyrimidine-based chemotherapies such as 5-fluorouracil (5-FU), capecitabine, and tegafur. Genetic variants in DPYD can lead to partial or complete enzyme deficiency, resulting in toxic accumulation of these drugs and severe, sometimes fatal, adverse reactions. MATERIALS & METHODS: Whole‑exome sequencing data from 1,612...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40810747
DOI: 10.1080/14622416.2025.2547563
PMCID: PMC12427532

Genes

DPYD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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