Publications:

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A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.

Pharmaceutics

Nunez-Torres, Rocio R; Pita, Guillermo G; Peña-Chilet, María M; López-López, Daniel D; Zamora, Jorge J; Roldán, Gema G; Herráez, Belén B; Álvarez, Nuria N; Alonso, María Rosario MR; Dopazo, Joaquín J; Gonzalez-Neira, Anna A

Publication Date: 2023-04-19

Variant appearance in text: DPYD: 1896T>C

PubMed Link: 37111771

Variant Present in the following documents:

• Main text
• pharmaceutics-15-01286.pdf

View BVdb publication page

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Influence of Single-Nucleotide Polymorphisms on Clinical Outcomes of Capecitabine-Based Chemotherapy in Colorectal Cancer Patients: A Systematic Review.

Cancers

Cura, Yasmin Y; Pérez-Ramírez, Cristina C; Sánchez-Martín, Almudena A; Membrive-Jimenez, Cristina C; Valverde-Merino, María Isabel MI; González-Flores, Encarnación E; Morales, Alberto Jiménez AJ

Publication Date: 2023-03-17

Variant appearance in text: DPYD: Phe632Phe; rs17376848

PubMed Link: 36980706

Variant Present in the following documents:

• Main text
• cancers-15-01821.pdf

View BVdb publication page

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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: F632F; rs17376848

PubMed Link: 36524458

Variant Present in the following documents:

• CAM4-12-7808-s002.xlsx, sheet 1

View BVdb publication page

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Predicting Dihydropyrimidine Dehydrogenase Deficiency and Related 5-Fluorouracil Toxicity: Opportunities and Challenges of DPYD Exon Sequencing and the Role of Phenotyping Assays.

International Journal Of Molecular Sciences

De Luca, Ottavia O; Salerno, Gerardo G; De Bernardini, Donatella D; Torre, Maria Simona MS; Simmaco, Maurizio M; Lionetto, Luana L; Gentile, Giovanna G; Borro, Marina M

Publication Date: 2022-11-11

Variant appearance in text: DPYD: 1896T>C; F632F; rs17376848

PubMed Link: 36430399

Variant Present in the following documents:

• ijms-23-13923.pdf

View BVdb publication page

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Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie

De Mattia, Elena E; Silvestri, Marco M; Polesel, Jerry J; Ecca, Fabrizio F; Mezzalira, Silvia S; Scarabel, Lucia L; Zhou, Yitian Y; Roncato, Rossana R; Lauschke, Volker M VM; Calza, Stefano S; Spina, Michele M; Puglisi, Fabio F; Toffoli, Giuseppe G; Cecchin, Erika E

Publication Date: 2022-10

Variant appearance in text: rs17376848

PubMed Link: 36063648

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1896T>C

PubMed Link: 35901010

Variant Present in the following documents:

• pone.0272129.pdf

View BVdb publication page

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Characterization of ADME Gene Variation in Colombian Population by Exome Sequencing.

Frontiers In Pharmacology

Silgado-Guzmán, Daniel Felipe DF; Angulo-Aguado, Mariana M; Morel, Adrien A; Niño-Orrego, María José MJ; Ruiz-Torres, Daniel-Armando DA; Contreras Bravo, Nora Constanza NC; Restrepo, Carlos Martin CM; Ortega-Recalde, Oscar O; Fonseca-Mendoza, Dora Janeth DJ

Publication Date: 2022

Variant appearance in text: rs17376848

PubMed Link: 35846994

Variant Present in the following documents:

• Table1.xlsx, sheet 1
• fphar-13-931531.pdf

View BVdb publication page

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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: 1896T>C; rs17376848

PubMed Link: 35743735

Variant Present in the following documents:

• Main text
• jpm-12-00950.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: 1896T>C; F632F

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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Vemurafenib Combined With Trametinib Significantly Benefits the Survival of a Patient With Stage IV Pancreatic Ductal Adenocarcinoma With BRAF V600E Mutation: A Case Report.

Frontiers In Oncology

Wang, Ziyao Z; He, Du D; Chen, Chen C; Liu, Xubao X; Ke, Nengwen N

Publication Date: 2021

Variant appearance in text: rs17376848

PubMed Link: 35145907

Variant Present in the following documents:

• Main text
• fonc-11-801320.pdf

View BVdb publication page

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: DPYD: 1896T>C; F632F

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Clinical Relevance of Novel Polymorphisms in the Dihydropyrimidine Dehydrogenase (DPYD) Gene in Patients with Severe Fluoropyrimidine Toxicity: A Spanish Case-Control Study.

Pharmaceutics

Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; López-Fernández, Luis A LA; Navares-Gómez, Marcos M; Mejía-Abril, Gina G; Abad-Santos, Francisco F; Zubiaur, Pablo P

Publication Date: 2021-11-29

Variant appearance in text: DPYD: Phe632Phe; rs17376848

PubMed Link: 34959317

Variant Present in the following documents:

• Main text
• pharmaceutics-13-02036.pdf

View BVdb publication page

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Clinical Relevance of Novel Polymorphisms in the Dihydropyrimidine Dehydrogenase (DPYD) Gene in Patients with Severe Fluoropyrimidine Toxicity: A Spanish Case-Control Study.

Pharmaceutics

Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; López-Fernández, Luis A LA; Navares-Gómez, Marcos M; Mejía-Abril, Gina G; Abad-Santos, Francisco F; Zubiaur, Pablo P

Publication Date: 2021-11-29

Variant appearance in text: DPYD: Phe632Phe; rs17376848

PubMed Link: 34959317

Variant Present in the following documents:

• Main text
• pharmaceutics-13-02036.pdf

View BVdb publication page

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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: 1896T>C; Phe632=; rs17376848

PubMed Link: 34442436

Variant Present in the following documents:

• Main text
• jpm-11-00792.pdf

View BVdb publication page

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Hepatic Arterial Infusion of Chemotherapy for Advanced Hepatobiliary Cancers: State of the Art.

Cancers

Laface, Carmelo C; Laforgia, Mariarita M; Molinari, Pasquale P; Ugenti, Ippazio I; Gadaleta, Cosmo Damiano CD; Porta, Camillo C; Ranieri, Girolamo G

Publication Date: 2021-06-21

Variant appearance in text: DPYD: 1896T>C

PubMed Link: 34205656

Variant Present in the following documents:

• Main text
• cancers-13-03091.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: rs17376848

PubMed Link: 34064668

Variant Present in the following documents:

• Main text
• jpm-11-00394.pdf

View BVdb publication page

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Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.

Molecular Genetics & Genomic Medicine

Monte, Natasha N; Pantoja, Karla B C C KBCC; Rodrigues, Juliana C G JCG; de Carvalho, Darlen C DC; Azevedo, Tereza C B TCB; Pereira, Esdras E B EEB; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Fernandes, Marianne R MR; Dos Santos, Ney P C NPC

Publication Date: 2021-07

Variant appearance in text: rs17376848

PubMed Link: 34050721

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.

Molecular Genetics & Genomic Medicine

Monte, Natasha N; Pantoja, Karla B C C KBCC; Rodrigues, Juliana C G JCG; de Carvalho, Darlen C DC; Azevedo, Tereza C B TCB; Pereira, Esdras E B EEB; de Assumpção, Paulo P PP; Dos Santos, Sidney E B SEB; Fernandes, Marianne R MR; Dos Santos, Ney P C NPC

Publication Date: 2021-07

Variant appearance in text: rs17376848

PubMed Link: 34050721

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: DPYD: F632F; rs17376848

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: DPYD: 1896T>C; F632F

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: DPYD: F632F; rs17376848

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Development of a Pharmacogenetic Lab-on-Chip Assay Based on the In-Check Technology to Screen for Genetic Variations Associated to Adverse Drug Reactions to Common Chemotherapeutic Agents.

Biosensors

Iemmolo, Rosario R; La Cognata, Valentina V; Morello, Giovanna G; Guarnaccia, Maria M; Arbitrio, Mariamena M; Alessi, Enrico E; Cavallaro, Sebastiano S

Publication Date: 2020-12-09

Variant appearance in text: DPYD: Phe632Phe; rs17376848

PubMed Link: 33317085

Variant Present in the following documents:

• Main text
• biosensors-10-00202.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: 1896T>C; F632=; rs17376848

PubMed Link: 33305610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacogenomic Assessment of Patients with Colorectal Cancer and Potential Treatments.

Pharmacogenomics And Personalized Medicine

Bruera, Gemma G; Ricevuto, Enrico E; ,

Publication Date: 2020

Variant appearance in text: DPYD: 1896T>C; rs17376848

PubMed Link: 33235483

Variant Present in the following documents:

• Main text
• pgpm-13-601.pdf

View BVdb publication page

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The Road so Far in Colorectal Cancer Pharmacogenomics: Are We Closer to Individualised Treatment?

Journal Of Personalized Medicine

Simões, Ana Rita AR; Fernández-Rozadilla, Ceres C; Maroñas, Olalla O; Carracedo, Ángel Á

Publication Date: 2020-11-19

Variant appearance in text: DPYD: 1896T>C; Phe632=; rs17376848

PubMed Link: 33228198

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms of xenobiotic-metabolizing and transporter genes, and the risk of gastric and colorectal cancer in an admixed population from the Brazilian Amazon.

American Journal Of Translational Research

de Castro, Amanda Nazaré Cohen Lima ANCL; Fernandes, Marianne Rodrigues MR; de Carvalho, Darlen Cardoso DC; de Souza, Tatiane Piedade TP; Rodrigues, Juliana Carla Gomes JCG; Andrade, Roberta Borges RB; Modesto, Antonio Andre Conde AAC; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Dos Santos, Ney Pereira Carneiro NPC

Publication Date: 2020

Variant appearance in text: rs17376848

PubMed Link: 33194059

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Genotyping/Phenotyping Approach with Careful Clinical Monitoring to Manage the Fluoropyrimidines-Based Therapy: Clinical Cases and Systematic Review of the Literature.

Journal Of Personalized Medicine

Conti, Valeria V; De Bellis, Emanuela E; Manzo, Valentina V; Sabbatino, Francesco F; Iannello, Francesco F; Dal Piaz, Fabrizio F; Izzo, Viviana V; Charlier, Bruno B; Stefanelli, Berenice B; Torsiello, Martina M; Iannaccone, Teresa T; Coglianese, Albino A; Colucci, Francesca F; Pepe, Stefano S; Filippelli, Amelia A

Publication Date: 2020-09-03

Variant appearance in text: DPYD: 1896T>C

PubMed Link: 32899374

Variant Present in the following documents:

• Main text
• jpm-10-00113.pdf

View BVdb publication page

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Relevance of Pharmacogenomics and Multidisciplinary Management in a Young-Elderly Patient With KRAS Mutant Colorectal Cancer Treated With First-Line Aflibercept-Containing Chemotherapy.

Frontiers In Oncology

Bruera, Gemma G; D'Andrilli, Antonio A; Simmaco, Maurizio M; Guadagni, Stefano S; Rendina, Erino Angelo EA; Ricevuto, Enrico E

Publication Date: 2020

Variant appearance in text: DPYD: 1896T>C

PubMed Link: 32850329

Variant Present in the following documents:

• Main text
• fonc-10-01155.pdf

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: 1896T>C; F632F; rs17376848

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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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: 1896T>C; F632F; rs17376848

PubMed Link: 32595208

Variant Present in the following documents:

• 41416_2020_962_MOESM1_ESM.pdf

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: DPYD: 1896T>C; Phe632=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.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: 1896T>C

PubMed Link: 31745289

Variant Present in the following documents:

• Main text
• 41431_2019_Article_540.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: DPYD: 1896T>C; Phe632=; rs17376848

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Intensive first-line FIr-C/FOx-C association of triplet chemotherapy plus cetuximab in RAS wild-type metastatic colorectal cancer patients: preliminary phase II data and prediction of individual limiting toxicity syndromes by pharmacogenomic biomarkers.

Therapeutic Advances In Medical Oncology

Bruera, Gemma G; Massacese, Silvia S; Pepe, Francesco F; Malapelle, Umberto U; Dal Mas, Antonella A; Ciacco, Eugenio E; Calvisi, Giuseppe G; Troncone, Giancarlo G; Simmaco, Maurizio M; Ricevuto, Enrico E

Publication Date: 2019

Variant appearance in text: DPYD: 1896T>C

PubMed Link: 31205502

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: DPYD: F632F; rs17376848

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Polymorphisms of ADME-related genes and their implications for drug safety and efficacy in Amazonian Amerindians.

Scientific Reports

Rodrigues, Juliana Carla Gomes JCG; Fernandes, Marianne Rodrigues MR; Guerreiro, João Farias JF; da Silva, Artur Luiz da Costa ALDC; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney S; Santos, Ney Pereira Carneiro Dos NPCD

Publication Date: 2019-05-10

Variant appearance in text: rs17376848

PubMed Link: 31076604

Variant Present in the following documents:

• Main text
• 41598_2019_Article_43610.pdf

View BVdb publication page

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DPYD*6 plays an important role in fluoropyrimidine toxicity in addition to DPYD*2A and c.2846A>T: a comprehensive analysis in 1254 patients.

The Pharmacogenomics Journal

Del Re, Marzia M; Cinieri, Saverio S; Michelucci, Angela A; Salvadori, Stefano S; Loupakis, Fotios F; Schirripa, Marta M; Cremolini, Chiara C; Crucitta, Stefania S; Barbara, Cecilia C; Di Leo, Angelo A; Latiano, Tiziana Pia TP; Pietrantonio, Filippo F; Di Donato, Samantha S; Simi, Paolo P; Passardi, Alessandro A; De Braud, Filippo F; Altavilla, Giuseppe G; Zamagni, Claudio C; Bordonaro, Roberto R; Butera, Alfredo A; Maiello, Evaristo E; Pinto, Carmine C; Falcone, Alfredo A; Mazzotti, Valentina V; Morganti, Riccardo R; Danesi, Romano R

Publication Date: 2019-12

Variant appearance in text: DPYD: 1896T>C

PubMed Link: 30723313

Variant Present in the following documents:

• Main text
• 41397_2019_Article_77.pdf

View BVdb publication page

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Use of Germline Genetic Variability for Prediction of Chemoresistance and Prognosis of Breast Cancer Patients.

Cancers

Hlavac, Viktor V; Kovacova, Maria M; Elsnerova, Katerina K; Brynychova, Veronika V; Kozevnikovova, Renata R; Raus, Karel K; Kopeckova, Katerina K; Mestakova, Sona S; Vrana, David D; Gatek, Jiri J; Ostasov, Pavel P; Vaclavikova, Radka R; Soucek, Pavel P

Publication Date: 2018-12-12

Variant appearance in text: DPYD: 1896T>C; F632F; rs17376848

PubMed Link: 30545124

Variant Present in the following documents:

• Main text
• cancers-10-00511.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: DPYD: 1896T>C; rs17376848

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs17376848

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Effect of dihydropyrimidine dehydrogenase single nucleotide polymorphisms on prognosis of breast cancer patients with chemotherapy.

Oncotarget

Qin, Fengxia F; Zhang, Huikun H; Huang, Yong Y; Yang, Limin L; Yu, Feng F; Liu, Xiaoli X; Fu, Li L; Gu, Feng F; Ma, Yongjie Y

Publication Date: 2017-12-19

Variant appearance in text: DPYD: 1896T>C; Phe632Phe; rs17376848

PubMed Link: 29340111

Variant Present in the following documents:

• Main text
• oncotarget-08-112060.pdf
• oncotarget-08-112060-s001.pdf

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: DPYD: F632F; rs17376848

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

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Dihydropyrimidine dehydrogenase pharmacogenetics for predicting fluoropyrimidine-related toxicity in the randomised, phase III adjuvant TOSCA trial in high-risk colon cancer patients.

British Journal Of Cancer

Ruzzo, A A; Graziano, F F; Galli, Fabio F; Galli, Francesca F; Rulli, E E; Lonardi, S S; Ronzoni, M M; Massidda, B B; Zagonel, V V; Pella, N N; Mucciarini, C C; Labianca, R R; Ionta, M T MT; Bagaloni, I I; Veltri, E E; Sozzi, P P; Barni, S S; Ricci, V V; Foltran, L L; Nicolini, M M; Biondi, E E; Bramati, A A; Turci, D D; Lazzarelli, S S; Verusio, C C; Bergamo, F F; Sobrero, A A; Frontini, L L; Menghi, M M; Magnani, M M

Publication Date: 2017-10-24

Variant appearance in text: rs17376848

PubMed Link: 29065426

Variant Present in the following documents:

• Main text
• bjc2017289a.pdf

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs17376848

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: 1896T>C; F632F; rs17376848

PubMed Link: 28481884

Variant Present in the following documents:

• Main text
• pone.0175998.pdf

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ABCC2-24C > T polymorphism is associated with the response to platinum/5-Fu-based neoadjuvant chemotherapy and better clinical outcomes in advanced gastric cancer patients.

Oncotarget

Li, Ziyu Z; Xing, Xiaofang X; Shan, Fei F; Li, Shuangxi S; Li, Zhongwu Z; Xiao, Aitang A; Xing, Zhaodong Z; Xue, Kan K; Li, Zhemin Z; Hu, Ying Y; Jia, Yongning Y; Miao, Rulin R; Zhang, Lianhai L; Bu, Zhaode Z; Wu, Aiwen A; Ji, Jiafu J

Publication Date: 2016-08-23

Variant appearance in text: DPYD: Phe632Phe; rs17376848

PubMed Link: 27487151

Variant Present in the following documents:

• Main text
• oncotarget-07-55449.pdf

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