Literature DB >> 32923881

Severe Capecitabine Toxicity Associated With a Rare DPYD Variant Identified Through Whole-Genome Sequencing.

Reynold C Ly1, Remington E Schmidt2, Patrick J Kiel1, Victoria M Pratt3, Bryan P Schneider4, Milan Radovich4, Steven M Offer2, Robert B Diasio2, Todd C Skaar1.   

Abstract

Entities:  

Year:  2020        PMID： 32923881      PMCID： PMC7446391          DOI： 10.1200/PO.20.00067

Source DB:  PubMed          Journal:  JCO Precis Oncol        ISSN： 2473-4284


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  26 in total

1.  Differential stability of thymidylate synthase 3'-untranslated region polymorphic variants regulated by AUF1.

Authors:  Rudolf Pullmann; Kotb Abdelmohsen; Ashish Lal; Jennifer L Martindale; Robert D Ladner; Myriam Gorospe
Journal:  J Biol Chem       Date:  2006-06-20       Impact factor: 5.157

2.  Increased risk of severe fluoropyrimidine-associated toxicity in patients carrying a G to C substitution in the first 28-bp tandem repeat of the thymidylate synthase 2R allele.

Authors:  Didier Meulendijks; Bart A W Jacobs; Abidin Aliev; Dick Pluim; Erik van Werkhoven; Maarten J Deenen; Jos H Beijnen; Annemieke Cats; Jan H M Schellens
Journal:  Int J Cancer       Date:  2015-10-01       Impact factor: 7.396

3.  Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.

Authors:  P Vreken; A B Van Kuilenburg; R Meinsma; A H van Gennip
Journal:  Hum Genet       Date:  1997-12       Impact factor: 4.132

4.  Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.

Authors:  A B P van Kuilenburg; J Meijer; D Dobritzsch; B Lohkamp; W Ruitenbeek; J Roelofsen; N G G M Abeling; M Duran; C Buzing
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2008-06       Impact factor: 1.381

5.  DPYD genotype-guided dose individualisation of fluoropyrimidine therapy in patients with cancer: a prospective safety analysis.

Authors:  Linda M Henricks; Carin A T C Lunenburg; Femke M de Man; Didier Meulendijks; Geert W J Frederix; Emma Kienhuis; Geert-Jan Creemers; Arnold Baars; Vincent O Dezentjé; Alexander L T Imholz; Frank J F Jeurissen; Johanna E A Portielje; Rob L H Jansen; Paul Hamberg; Albert J Ten Tije; Helga J Droogendijk; Miriam Koopman; Peter Nieboer; Marlène H W van de Poel; Caroline M P W Mandigers; Hilde Rosing; Jos H Beijnen; Erik van Werkhoven; André B P van Kuilenburg; Ron H N van Schaik; Ron H J Mathijssen; Jesse J Swen; Hans Gelderblom; Annemieke Cats; Henk-Jan Guchelaar; Jan H M Schellens
Journal:  Lancet Oncol       Date:  2018-10-19       Impact factor: 41.316

6.  Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis.

Authors:  Seid Hamzic; Dominic Kummer; Tanja K Froehlich; Markus Joerger; Stefan Aebi; Claire Palles; Ian Thomlinson; Didier Meulendijks; Jan H M Schellens; Xandra García-González; Luis A López-Fernández; Ursula Amstutz; Carlo R Largiadèr
Journal:  Pharmacol Res       Date:  2019-12-12       Impact factor: 7.658

7.  Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.

Authors:  Steven M Offer; Croix C Fossum; Natalie J Wegner; Alexander J Stuflesser; Gabriel L Butterfield; Robert B Diasio
Journal:  Cancer Res       Date:  2014-03-19       Impact factor: 12.701

8.  A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.

Authors:  Dan Rosmarin; Claire Palles; Alistair Pagnamenta; Kulvinder Kaur; Guillermo Pita; Miguel Martin; Enric Domingo; Angela Jones; Kimberley Howarth; Luke Freeman-Mills; Elaine Johnstone; Haitao Wang; Sharon Love; Claire Scudder; Patrick Julier; Ceres Fernández-Rozadilla; Clara Ruiz-Ponte; Angel Carracedo; Sergi Castellvi-Bel; Antoni Castells; Anna Gonzalez-Neira; Jenny Taylor; Rachel Kerr; David Kerr; Ian Tomlinson
Journal:  Gut       Date:  2014-03-19       Impact factor: 23.059

9.  Rare Dihydropyrimidine Dehydrogenase Variants and Toxicity by Floropyrimidines: A Case Report.

Authors:  Raffaele Palmirotta; Domenica Lovero; Hervé Delacour; Audrey Le Roy; Serge Cremades; Franco Silvestris
Journal:  Front Oncol       Date:  2019-03-11       Impact factor: 6.244

10.  A Novel DPYD Variant Associated With Severe Toxicity of Fluoropyrimidines: Role of Pre-emptive DPYD Genotype Screening.

Authors:  Chi C Tong; Ching W Lam; Ka O Lam; Victor H F Lee; Mai-Yee Luk
Journal:  Front Oncol       Date:  2018-07-24       Impact factor: 6.244
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  3 in total

1.  A narrative review of genetic factors affecting fluoropyrimidine toxicity.

Authors:  William H Gmeiner
Journal:  Precis Cancer Med       Date:  2021-12-30

Review 2.  Testing for Dihydropyrimidine Dehydrogenase Deficiency to Individualize 5-Fluorouracil Therapy.

Authors:  Robert B Diasio; Steven M Offer
Journal:  Cancers (Basel)       Date:  2022-06-30       Impact factor: 6.575

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

Authors:  Elena De Mattia; Marco Silvestri; Jerry Polesel; Fabrizio Ecca; Silvia Mezzalira; Lucia Scarabel; Yitian Zhou; Rossana Roncato; Volker M Lauschke; Stefano Calza; Michele Spina; Fabio Puglisi; Giuseppe Toffoli; Erika Cecchin
Journal:  Biomed Pharmacother       Date:  2022-09-02       Impact factor: 7.419
  3 in total

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