Publications:

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Poor association between dihydropyrimidine dehydrogenase (DPYD) genotype and fluoropyrimidine-induced toxicity in an Asian population.

Cancer Medicine

Kanai, Masashi M; Kawaguchi, Takahisa T; Kotaka, Masahito M; Manaka, Dai D; Hasegawa, Junichi J; Takagane, Akinori A; Munemoto, Yoshinori Y; Kato, Takeshi T; Eto, Tetsuya T; Touyama, Tetsuo T; Matsui, Takanori T; Shinozaki, Katsunori K; Matsumoto, Shigemi S; Mizushima, Tsunekazu T; Mori, Masaki M; Sakamoto, Junichi J; Ohtsu, Atsushi A; Yoshino, Takayuki T; Saji, Shigetoyo S; Matsuda, Fumihiko F

Publication Date: 2022-12-16

Variant appearance in text: DPYD: V335L; rs72549306

PubMed Link: 36524458

Variant Present in the following documents:

• Main text
• CAM4-12-7808.pdf

View BVdb publication page

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Pharmacogenetics implementation in the clinics: information and guidelines for germline variants.

Cancer Drug Resistance (Alhambra, Calif.)

Olivera, Gladys G; Sendra, Luis L; Herrero, María José MJ; Berlanga, Pablo P; Gargallo, Pablo P; Yáñez, Yania Y; Urtasun, Andrea A; de Mora, Jaime Font JF; Castel, Victoria V; Cañete, Adela A; Aliño, Salvador F SF

Publication Date: 2019

Variant appearance in text: rs72549306

PubMed Link: 35582138

Variant Present in the following documents:

• cdr-2-53.pdf

View BVdb publication page

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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: V335L

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: DPYD: 1003G>T; V335L; rs72549306

PubMed Link: 34621706

Variant Present in the following documents:

• Main text
• tcp-29-135-s001.xls, sheet 1
• tcp-29-135.pdf

View BVdb publication page

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Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.

Journal Of Personalized Medicine

Gill, Pritmohinder S PS; Yu, Feliciano B FB; Porter-Gill, Patricia A PA; Boyanton, Bobby L BL; Allen, Judy C JC; Farrar, Jason E JE; Veerapandiyan, Aravindhan A; Prodhan, Parthak P; Bielamowicz, Kevin J KJ; Sellars, Elizabeth E; Burrow, Andrew A; Kennedy, Joshua L JL; Clothier, Jeffery L JL; Becton, David L DL; Rule, Don D; Schaefer, G Bradley GB

Publication Date: 2021-05-11

Variant appearance in text: rs72549306

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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Case report: severe toxicity in an African-American patient receiving FOLFOX carrying uncommon allelic variants in DPYD.

Pharmacogenomics

Sissung, Tristan M TM; Cordes, Lisa L; Peer, Cody J CJ; Gandhy, Shruti S; Redman, Jason J; Strauss, Julius J; Figg, William D WD

Publication Date: 2021-01

Variant appearance in text: DPYD: 1003G>T; V335L; rs72549306

PubMed Link: 33305610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: DPYD: 1003G>T; V335L; rs72549306

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines.

European Journal Of Human Genetics : Ejhg

Lunenburg, Carin A T C CATC; van der Wouden, Cathelijne H CH; Nijenhuis, Marga M; Crommentuijn-van Rhenen, Mandy H MH; de Boer-Veger, Nienke J NJ; Buunk, Anne Marie AM; Houwink, Elisa J F EJF; Mulder, Hans H; Rongen, Gerard A GA; van Schaik, Ron H N RHN; van der Weide, Jan J; Wilffert, Bob B; Deneer, Vera H M VHM; Swen, Jesse J JJ; Guchelaar, Henk-Jan HJ

Publication Date: 2020-04

Variant appearance in text: DPYD: 1003G>T; Val335Leu; rs72549306

PubMed Link: 31745289

Variant Present in the following documents:

• 41431_2019_Article_540.pdf

View BVdb publication page

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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: rs72549306

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs72549306

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs72549306

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients.

The Epma Journal

Del Re, Marzia M; Michelucci, Angela A; Di Leo, Angelo A; Cantore, Maurizio M; Bordonaro, Roberto R; Simi, Paolo P; Danesi, Romano R

Publication Date: 2015

Variant appearance in text: DPYD: 1003G>T

PubMed Link: 26330892

Variant Present in the following documents:

• Main text
• 13167_2015_Article_39.pdf

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs72549306

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs72549306

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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