DPYD c.557A>G ;(p.Y186C)

Variant ID: 1-98165030-T-C

NM_000110.3(DPYD):c.557A>G;(p.Y186C)

This variant was identified in 60 publications

View GRCh38 version.




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: DPYD: 557A>G; Y186C; rs115232898
PubMed Link: 37108974
Variant Present in the following documents:
  • Main text
  • jpm-13-00588.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DPYD: 557A>G; Tyr186Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Prevalence of exposure to pharmacogenetic drugs by the Saudis treated at the health care centers of the Ministry of National Guard.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society
Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Paras, Bien B
Publication Date: 2022-08

Variant appearance in text: rs115232898
PubMed Link: 36164570
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.

Journal Of Personalized Medicine
Hutchcraft, Megan Leigh ML; Zhang, Shulin S; Lin, Nan N; Gottschalk, Ginny Lee GL; Keck, James W JW; Belcher, Elizabeth A EA; Sears, Catherine C; Wang, Chi C; Liu, Kun K; Dietz, Lauren E LE; Pickarski, Justine C JC; Wei, Sainan S; Cardarelli, Roberto R; DiPaola, Robert S RS; Kolesar, Jill M JM
Publication Date: 2022-08-08

Variant appearance in text: DPYD: 557A>G
PubMed Link: 36013246
Variant Present in the following documents:
  • Main text
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: 557A>G
PubMed Link: 35901010
Variant Present in the following documents:
  • pone.0272129.pdf
View BVdb publication page



Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guide Chemotherapy Dosing.

Frontiers In Oncology
Varughese, Lisa A LA; Bhupathiraju, Madhuri M; Hoffecker, Glenda G; Terek, Shannon S; Harr, Margaret M; Hakonarson, Hakon H; Cambareri, Christine C; Marini, Jessica J; Landgraf, Jeffrey J; Chen, Jinbo J; Kanter, Genevieve G; Lau-Min, Kelsey S KS; Massa, Ryan C RC; Damjanov, Nevena N; Reddy, Nandi J NJ; Oyer, Randall A RA; Teitelbaum, Ursina R UR; Tuteja, Sony S
Publication Date: 2022

Variant appearance in text: DPYD: 557A>G; Y186C; rs115232898
PubMed Link: 35865463
Variant Present in the following documents:
  • Main text
  • fonc-12-859846.pdf
View BVdb publication page



Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy.

Cancers
Diasio, Robert B RB; Offer, Steven M SM
Publication Date: 2022-06-30

Variant appearance in text: DPYD: 557A>G; Y186C; rs115232898
PubMed Link: 35804978
Variant Present in the following documents:
  • Main text
  • cancers-14-03207.pdf
View BVdb publication page



Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.

Pharmacogenomics And Personalized Medicine
Nthontho, Keneuoe Cecilia KC; Ndlovu, Andrew Khulekani AK; Sharma, Kirthana K; Kasvosve, Ishmael I; Hertz, Daniel Louis DL; Paganotti, Giacomo Maria GM
Publication Date: 2022

Variant appearance in text: DPYD: Y186C; rs115232898
PubMed Link: 35761855
Variant Present in the following documents:
  • Main text
  • pgpm-15-613.pdf
View BVdb publication page



Germline variants in cancer therapy.

Cancer Drug Resistance (Alhambra, Calif.)
Kaehler, Meike M; Cascorbi, Ingolf I
Publication Date: 2019

Variant appearance in text: DPYD: Y186C
PubMed Link: 35582146
Variant Present in the following documents:
  • cdr-2-18.pdf
View BVdb publication page



Racial and ethnic differences in capecitabine toxicity in patients with gastrointestinal tract cancers.

Annals Of Gastroenterology
Brazelton, Alicia A; Yande, Soham S; Pope, Rita R; Johnson, Michael L ML; Musher, Benjamin B; Trivedi, Meghana V MV
Publication Date: 2022

Variant appearance in text: DPYD: Y186C
PubMed Link: 35479584
Variant Present in the following documents:
  • AnnGastroenterol-35-182.pdf
View BVdb publication page



Dihydropyrimidine dehydrogenase (DPD) polymorphisms knocking on the door.

Ecancermedicalscience
Donadio, Mauro Daniel Spina MDS; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT; de Mello, Celso Abdon Lopes CAL
Publication Date: 2022

Variant appearance in text: DPYD: 557A>G; rs115232898
PubMed Link: 35242225
Variant Present in the following documents:
  • Main text
  • can-16-1344.pdf
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: DPYD: 557A>G
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
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: rs115232898
PubMed Link: 35181665
Variant Present in the following documents:
  • Main text
  • 41525_2022_Article_283.pdf
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
  • 41525_2022_283_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: DPYD: Y186C; rs115232898
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Plos One
Goljan, Ewa E; Abouelhoda, Mohammed M; ElKalioby, Mohamed M MM; Jabaan, Amjad A; Alghithi, Nada N; Meyer, Brian F BF; Monies, Dorota D
Publication Date: 2022

Variant appearance in text: DPYD: Y186C; rs115232898
PubMed Link: 35089958
Variant Present in the following documents:
  • Main text
  • pone.0263137.pdf
  • pone.0263137.s001.xlsx, sheet 1
View BVdb publication page



Ethnic Diversity of DPD Activity and the DPYD Gene: Review of the Literature.

Pharmacogenomics And Personalized Medicine
White, Cassandra C; Scott, Rodney J RJ; Paul, Christine C; Ziolkowski, Andrew A; Mossman, David D; Ackland, Stephen S
Publication Date: 2021

Variant appearance in text: DPYD: 557A>G; Y186C; rs115232898
PubMed Link: 34916829
Variant Present in the following documents:
  • Main text
  • pgpm-14-1603.pdf
View BVdb publication page



The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology
da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S
Publication Date: 2021

Variant appearance in text: rs115232898
PubMed Link: 34721006
Variant Present in the following documents:
  • Main text
  • fphar-12-634016.pdf
View BVdb publication page



Real-World Evaluation of Universal Germline Screening for Cancer Treatment-Relevant Pharmacogenes.

Cancers
Hutchcraft, Megan L ML; Lin, Nan N; Zhang, Shulin S; Sears, Catherine C; Zacholski, Kyle K; Belcher, Elizabeth A EA; Durbin, Eric B EB; Villano, John L JL; Cavnar, Michael J MJ; Arnold, Susanne M SM; Ueland, Frederick R FR; Kolesar, Jill M JM
Publication Date: 2021-09-08

Variant appearance in text: DPYD: 557A>G
PubMed Link: 34572750
Variant Present in the following documents:
  • Main text
  • cancers-13-04524.pdf
View BVdb publication page



PriME-PGx: La Princesa University Hospital Multidisciplinary Initiative for the Implementation of Pharmacogenetics.

Journal Of Clinical Medicine
Zubiaur, Pablo P; Mejía-Abril, Gina G; Navares-Gómez, Marcos M; Villapalos-García, Gonzalo G; Soria-Chacartegui, Paula P; Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Abad-Santos, Francisco F
Publication Date: 2021-08-24

Variant appearance in text: rs115232898
PubMed Link: 34501219
Variant Present in the following documents:
  • Main text
  • jcm-10-03772.pdf
View BVdb publication page



DPYD Genotyping in Patients Who Have Planned Cancer Treatment With Fluoropyrimidines: A Health Technology Assessment.

Ontario Health Technology Assessment Series
,
Publication Date: 2021

Variant appearance in text: DPYD: 557A>G; Y186C
PubMed Link: 34484488
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of population-level pharmacogenetic actionability in Alabama.

Clinical And Translational Science
Davis, Brittney H BH; Williams, Kelly K; Absher, Devin D; Korf, Bruce B; Limdi, Nita A NA
Publication Date: 2021-11

Variant appearance in text: rs115232898
PubMed Link: 34121327
Variant Present in the following documents:
  • Main text
  • CTS-14-2327.pdf
View BVdb publication page



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: rs115232898
PubMed Link: 34064668
Variant Present in the following documents:
  • Main text
  • jpm-11-00394.pdf
View BVdb publication page



An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities.

Cancers
Palles, Claire C; Fotheringham, Susan S; Chegwidden, Laura L; Lucas, Marie M; Kerr, Rachel R; Mozolowski, Guy G; Rosmarin, Dan D; Taylor, Jenny C JC; Tomlinson, Ian I; Kerr, David D
Publication Date: 2021-03-24

Variant appearance in text: DPYD: 557A>G; rs115232898
PubMed Link: 33805100
Variant Present in the following documents:
  • Main text
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: rs115232898
PubMed Link: 33767731
Variant Present in the following documents:
  • Main text
  • fgene-12-626954.pdf
View BVdb publication page



Impact of pretreatment dihydropyrimidine dehydrogenase genotype-guided fluoropyrimidine dosing on chemotherapy associated adverse events.

Clinical And Translational Science
Wigle, Theodore J TJ; Povitz, Brandi L BL; Medwid, Samantha S; Teft, Wendy A WA; Legan, Robin M RM; Lenehan, John J; Nevison, Stephanie S; Panuganty, Veera V; Keller, Denise D; Mailloux, Jaymie J; Siebring, Victoria V; Sarma, Sisira S; Choi, Yun-Hee YH; Welch, Stephen S; Winquist, Eric E; Schwarz, Ute I UI; Kim, Richard B RB
Publication Date: 2021-07

Variant appearance in text: DPYD: 557A>G
PubMed Link: 33620159
Variant Present in the following documents:
  • Main text
  • CTS-14-1338.pdf
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: DPYD: 557A>G; rs115232898
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s003.xlsx, sheet 1
View BVdb publication page



Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity.

British Journal Of Clinical Pharmacology
Hamzic, Seid S; Schärer, Dominic D; Offer, Steven M SM; Meulendijks, Didier D; Nakas, Christos C; Diasio, Robert B RB; Fontana, Stefano S; Wehrli, Marc M; Schürch, Stefan S; Amstutz, Ursula U; Largiadèr, Carlo R CR
Publication Date: 2021-08

Variant appearance in text: DPYD: 557A>G; Y186C; rs115232898
PubMed Link: 33491253
Variant Present in the following documents:
  • Main text
  • BCP-87-3234.pdf
View BVdb publication page



Implementation of pharmacogenomic testing in oncology care (PhOCus): study protocol of a pragmatic, randomized clinical trial.

Therapeutic Advances In Medical Oncology
Reizine, Natalie N; Vokes, Everett E EE; Liu, Ping P; Truong, Tien M TM; Nanda, Rita R; Fleming, Gini F GF; Catenacci, Daniel V T DVT; Pearson, Alexander T AT; Parsad, Sandeep S; Danahey, Keith K; van Wijk, Xander M R XMR; Yeo, Kiang-Teck J KJ; Ratain, Mark J MJ; O'Donnell, Peter H PH
Publication Date: 2020

Variant appearance in text: DPYD: 557A>G; Y186C; rs115232898
PubMed Link: 33414846
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 557A>G; Y186C; rs115232898
PubMed Link: 33305610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenetic Variants in the DPYD and TYMS Genes are Clinically Significant Predictors of Fluoropyrimidine Toxicity: Are We Ready for Use in our Clinical Practice.

Archives Of Pharmacology And Therapeutics
Saif, Muhammad Wasif MW; Hachem, Hilal H; Purvey, Sneha S; Hamal, Ruchi R; Zhang, Lulu L; Siddiqui, Nauman Saleem NS; Godara, Amandeep A; Diasio, Robert B RB
Publication Date: 2020

Variant appearance in text: DPYD: Y186C; rs115232898
PubMed Link: 33283204
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports
Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR
Publication Date: 2020-12-04

Variant appearance in text: rs115232898
PubMed Link: 33277594
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_78231.pdf
  • 41598_2020_78231_MOESM1_ESM.pdf
View BVdb publication page



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: 557A>G; Tyr186Cys; rs115232898
PubMed Link: 33228198
Variant Present in the following documents:
  • Main text
  • jpm-10-00237.pdf
View BVdb publication page



Individualized Dosing of Fluoropyrimidine-Based Chemotherapy to Prevent Severe Fluoropyrimidine-Related Toxicity: What Are the Options?

Clinical Pharmacology And Therapeutics
Knikman, Jonathan E JE; Gelderblom, Hans H; Beijnen, Jos H JH; Cats, Annemieke A; Guchelaar, Henk-Jan HJ; Henricks, Linda M LM
Publication Date: 2021-03

Variant appearance in text: DPYD: Y186C
PubMed Link: 33020924
Variant Present in the following documents:
  • Main text
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: Y186C; rs115232898
PubMed Link: 32973300
Variant Present in the following documents:
  • Main text
  • 41416_2020_1084_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: 557A>G
PubMed Link: 32899374
Variant Present in the following documents:
  • Main text
  • jpm-10-00113.pdf
View BVdb publication page



A review on the importance of genotyping and phenotyping in fluoropyrimidine treatment.

Medicine And Pharmacy Reports
Deac, Andrada-Larisa AL; Burz, Claudia Cristina CC; Bocşe, Horea Florin HF; Bocşan, Ioana Corina IC; Buzoianu, Anca-Dana AD
Publication Date: 2020-07

Variant appearance in text: DPYD: Y186C
PubMed Link: 32832886
Variant Present in the following documents:
  • Main text
  • cm-93-223.pdf
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: Y186C; rs115232898
PubMed Link: 32707991
Variant Present in the following documents:
  • Main text
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: 557A>G; Y186C
PubMed Link: 32595208
Variant Present in the following documents:
  • Main text
  • 41416_2020_962_MOESM1_ESM.pdf
  • 41416_2020_Article_962.pdf
View BVdb publication page



ToxNav germline genetic testing and PROMinet digital mobile application toxicity monitoring: Results of a prospective single-center clinical utility study-PRECISE study.

Cancer Medicine
Lee, Lennard Y W LYW; Starkey, Thomas T; Sivakumar, Shivan S; Fotheringham, Susan S; Mozolowski, Guy G; Shearwood, Vanessa V; Palles, Claire C; Camilleri, Philip P; Church, David D; Kerr, Rachel R; Kerr, David D
Publication Date: 2019-10

Variant appearance in text: rs115232898
PubMed Link: 31486228
Variant Present in the following documents:
  • Main text
  • CAM4-8-6305.pdf
View BVdb publication page