Publications:

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: DPYD: 1371C>T; N457N

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

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DPYD Exome, mRNA Expression and Uracil Levels in Early Severe Toxicity to Fluoropyrimidines: An Extreme Phenotype Approach.

Journal Of Personalized Medicine

Villalvazo, Priscila P; Marzal-Alfaro, Belén B; García-Alfonso, Pilar P; Revuelta-Herrero, José Luis JL; Thomas, Fabienne F; López-Tarruella, Sara S; García-González, Xandra X; Calvo, Aitana A; Yakoubi, Malika M; Salvador-Martín, Sara S; López-López, Flora F; Aguilar, Iker I; Sanjurjo-Sáez, María M; Martín, Miguel M; López-Fernández, Luis Andrés LA

Publication Date: 2021-08-13

Variant appearance in text: DPYD: 1371C>T; Asn457=; rs57918000

PubMed Link: 34442436

Variant Present in the following documents:

• Main text
• jpm-11-00792.pdf

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A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency.

British Journal Of Cancer

Pallet, Nicolas N; Hamdane, Salma S; Garinet, Simon S; Blons, Hélène H; Zaanan, Aziz A; Paillaud, Elena E; Taieb, Julien J; Laprevote, Olivier O; Loriot, Marie-Anne MA; Narjoz, Céline C

Publication Date: 2020-09

Variant appearance in text: DPYD: 1371C>T; N457N; rs57918000

PubMed Link: 32595208

Variant Present in the following documents:

• 41416_2020_962_MOESM1_ESM.pdf

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Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics

Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE

Publication Date: 2020-01

Variant appearance in text: rs57918000

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

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A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced DPD enzyme activity.

Clinical Pharmacology And Therapeutics

Offer, S M SM; Lee, A M AM; Mattison, L K LK; Fossum, C C; Wegner, N J NJ; Diasio, R B RB

Publication Date: 2013-07

Variant appearance in text: DPYD: N457N

PubMed Link: 23588312

Variant Present in the following documents:

• Main text
• nihms524159.pdf

View BVdb publication page