Publications:

---

Pharmacogenetics and Adverse Events in the Use of Fluoropyrimidine in a Cohort of Cancer Patients on Standard of Care Treatment in Zimbabwe.

Journal Of Personalized Medicine

Afolabi, Boluwatife Lawrence BL; Mazhindu, Tinashe T; Zedias, Chikwambi C; Borok, Margaret M; Ndlovu, Ntokozo N; Masimirembwa, Collen C; On Behalf Of Consortium For Genomics And Therapeutics In Africa Cgta,

Publication Date: 2023-03-28

Variant appearance in text: rs61622928

PubMed Link: 37108974

Variant Present in the following documents:

• Main text
• jpm-13-00588.pdf

View BVdb publication page

---

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: DPYD: M406I; rs61622928

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation.

Plos One

Lee, Seung-Been SB; Shin, Jong-Yeon JY; Kwon, Nak-Jung NJ; Kim, Changhoon C; Seo, Jeong-Sun JS

Publication Date: 2022

Variant appearance in text: DPYD: 1218G>A

PubMed Link: 35901010

Variant Present in the following documents:

• pone.0272129.pdf

View BVdb publication page

---

Genetic Variations of the DPYD Gene and Its Relationship with Ancestry Proportions in Different Ecuadorian Trihybrid Populations.

Journal Of Personalized Medicine

Farinango, Camila C; Gallardo-Cóndor, Jennifer J; Freire-Paspuel, Byron B; Flores-Espinoza, Rodrigo R; Jaramillo-Koupermann, Gabriela G; López-Cortés, Andrés A; Burgos, Germán G; Tejera, Eduardo E; Cabrera-Andrade, Alejandro A

Publication Date: 2022-06-10

Variant appearance in text: DPYD: 1218G>A; rs61622928

PubMed Link: 35743735

Variant Present in the following documents:

• Main text
• jpm-12-00950.pdf

View BVdb publication page

---

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: 1218G>A; M406I

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 1218G>A; Met406Ile; rs61622928

PubMed Link: 34442436

Variant Present in the following documents:

• Main text
• jpm-11-00792.pdf

View BVdb publication page

---

Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations.

Frontiers In Genetics

da Rocha, Jorge E B JEB; Lombard, Zané Z; Ramsay, Michèle M

Publication Date: 2021

Variant appearance in text: rs61622928

PubMed Link: 33767731

Variant Present in the following documents:

• Main text
• fgene-12-626954.pdf

View BVdb publication page

---

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.

British Journal Of Cancer

Zhou, Yitian Y; Dagli Hernandez, Carolina C; Lauschke, Volker M VM

Publication Date: 2020-12

Variant appearance in text: DPYD: M406I; rs61622928

PubMed Link: 32973300

Variant Present in the following documents:

• 41416_2020_1084_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

Journal Of Clinical Medicine

Hishinuma, Eiji E; Gutiérrez Rico, Evelyn E; Hiratsuka, Masahiro M

Publication Date: 2020-07-22

Variant appearance in text: DPYD: M406I; rs61622928

PubMed Link: 32707991

Variant Present in the following documents:

• Main text
• jcm-09-02342.pdf

View BVdb publication page

---

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: 1218G>A; M406I; rs61622928

PubMed Link: 32595208

Variant Present in the following documents:

• 41416_2020_962_MOESM1_ESM.pdf

View BVdb publication page

---

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: rs61622928

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

---

New advances in DPYD genotype and risk of severe toxicity under capecitabine.

Plos One

Etienne-Grimaldi, Marie-Christine MC; Boyer, Jean-Christophe JC; Beroud, Christophe C; Mbatchi, Litaty L; van Kuilenburg, André A; Bobin-Dubigeon, Christine C; Thomas, Fabienne F; Chatelut, Etienne E; Merlin, Jean-Louis JL; Pinguet, Frédéric F; Ferrand, Christophe C; Meijer, Judith J; Evrard, Alexandre A; Llorca, Laurence L; Romieu, Gilles G; Follana, Philippe P; Bachelot, Thomas T; Chaigneau, Loic L; Pivot, Xavier X; Dieras, Véronique V; Largillier, Rémy R; Mousseau, Mireille M; Goncalves, Anthony A; Roché, Henri H; Bonneterre, Jacques J; Servent, Véronique V; Dohollou, Nadine N; Château, Yann Y; Chamorey, Emmanuel E; Desvignes, Jean-Pierre JP; Salgado, David D; Ferrero, Jean-Marc JM; Milano, Gérard G

Publication Date: 2017

Variant appearance in text: DPYD: 1218G>A; M406I; rs61622928

PubMed Link: 28481884

Variant Present in the following documents:

• Main text
• pone.0175998.pdf

View BVdb publication page

---

Pretreatment serum uracil concentration as a predictor of severe and fatal fluoropyrimidine-associated toxicity.

British Journal Of Cancer

Meulendijks, Didier D; Henricks, Linda M LM; Jacobs, Bart A W BAW; Aliev, Abidin A; Deenen, Maarten J MJ; de Vries, Niels N; Rosing, Hilde H; van Werkhoven, Erik E; de Boer, Anthonius A; Beijnen, Jos H JH; Mandigers, Caroline M P W CMPW; Soesan, Marcel M; Cats, Annemieke A; Schellens, Jan H M JHM

Publication Date: 2017-05-23

Variant appearance in text: DPYD: Met406Ile

PubMed Link: 28427087

Variant Present in the following documents:

View BVdb publication page

---

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: N/A

PubMed Link: 23588312

Variant Present in the following documents:

View BVdb publication page

---

Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.

Plos One

Gross, Eva E; Busse, Birgit B; Riemenschneider, Matthias M; Neubauer, Steffi S; Seck, Katharina K; Klein, Hanns-Georg HG; Kiechle, Marion M; Lordick, Florian F; Meindl, Alfons A

Publication Date: 2008

Variant appearance in text: DPYD: 1218G>A; Met406Ile

PubMed Link: 19104657

Variant Present in the following documents:

• Main text
• pone.0004003.pdf

View BVdb publication page

---