Results 71 to 80 of about 4,744 (194)

Translating Genomic Competencies Into Cancer Nursing Practice: A Scoping Review

Journal of Clinical Nursing, EarlyView.
ABSTRACT Genomics‐informed cancer care is central to precision oncology; however, integrating genomic competencies into routine practice remains challenging. Despite the development of competency frameworks, limited clarity exists regarding how these competencies are operationalised within oncology settings. Aim To synthesise and critically examine how
Libby Rea Brownlee, Sandra Fitzgerald, John Parsons, Tess Moeke‐Maxwell, Tracie Miles, Ben Lawrence   +5 more
wiley   +1 more source

Characterization of Reference Materials for DPYD

The Journal of Molecular Diagnostics
The DPYD gene encodes dihydropyrimidine dehydrogenase (DPD), which is involved in the catalysis of uracil and thymine, as well as 5-fluorouracil (5-FU), which is used to treat solid tumors. Patients with decreased DPD activity are at risk of serious, sometimes fatal, adverse drug reactions to this important cancer drug. Pharmacogenetic testing for DPYD
Andrea Gaedigk, Amy J. Turner, Ann M. Moyer, Pablo Zubiaur, Erin C. Boone, Wendy Y. Wang, Ulrich Broeckel, Lisa V. Kalman   +7 more
openaire   +3 more sources

Germline cis variant determines epigenetic regulation of the anti-cancer drug metabolism gene dihydropyrimidine dehydrogenase (DPYD). [PDF]

Enhancers are critical for regulating tissue-specific gene expression, and genetic variants within enhancer regions have been suggested to contribute to various cancer-related processes, including therapeutic resistance.
Innocenti, Federico, Zhang, Ting, Wang, Zhiquan, Largiadèr, Carlo R, Bouchonville, Kelly J, Ambrodji, Alisa, Schmidt, Remington E, Stroka, Deborah, Huang, Huixing, Etheridge, Amy S, Offer, Steven M, Bembenek, Brianna M, Temesgen, Zoey B, Diasio, Robert B   +13 more
core   +2 more sources

Genomic Medicine Sweden: Advancing precision medicine at the national level

Journal of Internal Medicine, Volume 300, Issue 4, Page 397-419, October 2026.
Abstract High‐throughput sequencing has transformed clinical diagnostics of rare diseases (RD), cancer and infectious diseases by enabling the identification of disease‐causing genetic alterations and facilitating individualised treatment and care.
Anders Edsjö, Anna Lindstrand, Panagiotis Baliakas, David Gisselsson, Paula Mölling, Mia Wadelius, Åsa Johansson, Hannes Olauson, Hans Ehrencrona, Lovisa Lovmar, Christian G. Giske, Henrik Green, Ann Nordgren, Fulya Taylan, Martin Hallbeck, Erika Tång Hallbäck, Anna Green, Markus Heidenblad, Kina Höglund, Anders Jemt, Carl Mårten Lindqvist, Maria Johansson Soller, Magnus Sabel, Colum Walsh, Hartmut Vogt, Craig E. Wheelock, Martin Bergö, Jens Enoksson, Ann Ekberg Jansson, Cecilia Fagerström, Jan Holgersson, Stephanie Anja Juran, Mats G. Karlsson, Frida Lundmark, Eva Tiensuu Janson, Andreas Muranyi Scheutz, Malin Sund, Päivi Östling, Sofia Gruvberger‐Saal, Marene Landström, Malin Melin, Lars Palmqvist, Richard Palmqvist, Bianca Stenmark, Anna Wedell, Malin Karnå, Katarina Nyström, Tobias Strid, Per Sikora, Maria Johansson, Therese Fagerqvist, Mirja Carlsson Möller, Oskar Frisell, Mats Ulfendahl, Mikaela Friedman, Lucia Cavelier, Valtteri Wirta, Thoas Fioretos, Richard Rosenquist   +58 more
wiley   +1 more source

Germline pharmacogenomics of DPYD*9A (c.85T>C) variant in patients with gastrointestinal malignancies treated with fluoropyrimidines [PDF]

, 2018
The correlation between DPYD*9A (c.85T>C) genotype and dihydropyrimidine dehydrogenase (DPD) deficiency clinical phenotype is controversial. Reference laboratories either did not perform DPYD*9A genotyping or have stopped DPYD*9A genotyping and limited ...
Jones, Vanessa, Patel, Girijesh K, Singh, Ajay P, Laurini, Javier Ariel, Bhadkamkar, Sanjyot, Norden, Carole, David Roland Clarkson, Clarkson, David Roland, Ajay P. Singh, Nelson, Cindy, Lee, Frances, Hosein, Peter Joel, William R. Taylor, Sanjyot Bhadkamkar, Frances Lee, Carole Wiseman Norden, Wilma Baliem, Laurini, Javier, Taylor, William R, Khushman, Moh'd, Singh, Ajay, Vanessa Jones, Javier Ariel Laurini, Cindy Nelson, Patel, Girijesh Kumar, Girijesh Kumar Patel, Norden, Carole Wiseman, Thomas Wayne Butler, Baliem, Wilma, Moh’d Khushman, Cameron, Daniel, Butler, Thomas Wayne, Khushman, Moh'd M, Peter Joel Hosein, Daniel Cameron   +34 more
core   +1 more source

Table1_Implementation of pharmacogenetic testing in oncology: DPYD-guided dosing to prevent fluoropyrimidine toxicity in British Columbia.DOCX

, 2023
Background: Fluoropyrimidine toxicity is often due to variations in the gene (DPYD) encoding dihydropyrimidine dehydrogenase (DPD). DPYD genotyping can be used to adjust doses to reduce the likelihood of fluoropyrimidine toxicity while maintaining ...
Bruce C. Carleton, Angela Wu, Helen Anderson (222920), Helen Anderson, Caroline Lohrisch, Angela Wu (9639271), Sean Young, Colin J. D. Ross, Bruce C. Carleton (3925343), Curtis Hughesman (1654330), Colin J. D. Ross (14059698), Curtis Hughesman, Caroline Lohrisch (3994943), Sean Young (6911477)   +13 more
core   +1 more source

UGT1A1 genotype testing for irinotecan: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 2986-3001, September 2026.
Abstract Irinotecan, a topoisomerase I inhibitor, is available as both non‐pegylated and pegylated formulations. The non‐pegylated formulation is licensed for use in advanced colorectal cancer either in combination with other agents or as monotherapy.
Dharmisha Chauhan, Cinzia Dello Russo, Jack Thompson, Dyfrig A. Hughes, Katherine Payne, Maria Tsakiroglou, Paul Ross, Rena Chauhan, Simon Jenkinson, Jessica Keen, Sophie Harding, Eleanor Lau, Michael Braun, Roshan Agarwal, Richard Adams, Elisabeth Rolf, Farah Al‐Sheikhli, Sarah Mitchell, Ruth Hammond, Rosie Roberts, Lorna Cairns, Shirley Heggarty, Janet Graham, Justin Mencel, Munir Pirmohamed   +24 more
wiley   +1 more source

Methylation of the DPYD Promoter and Dihydropyrimidine Dehydrogenase Deficiency [PDF]

Clinical Cancer Research, 2006
To the Editor: In their important article, Ezzeldin et al. ([1][1]) report a positive association between dihydropyrimidine dehydrogenase (DPD) deficiency and the DPD gene (DPYD) promoter hypermethylation in peripheral blood mononuclear cells of studied individuals.
Jinsheng Yu, Howard L. McLeod
openaire   +1 more source

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time

Current Therapeutic Research, 2019
: Objective: Fluoropyrimidine treatment can be optimized based on dihydropyrimidine dehydrogenase (DPD) activity. DPD dysfunction leads to increased exposure to active metabolites, which can result in severe or even fatal toxicity.
Marieke J.H. Coenen, PhD, Aimée D.C. Paulussen, PhD, Marc Breuer, BSc, Martijn Lindhout, BSc, Demis C.J. Tserpelis, BSc, Anja Steyls, BSc, Jörgen Bierau, PhD, Bianca J.C. van den Bosch, PhD   +7 more
doaj   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, Volume 20, Issue 8, Page 1913-1932, August 2026.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source