Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD
Results from DPYD exon sequencing and GWAS analysis did not identify additional genetic variants associated with severe toxicity, which suggests that testing for single markers at a population level currently has limited clinical value. Identifying additional variants on an individual level is still promising to explain fluoropyrimidine-related severe toxicity. In addition, studies with larger samples sizes, in more diverse cohorts are needed to identify potential clinically relevant genetic variants related to severe fluoropyrimidine toxicity.
Authors
- Jan H.M. Schellens (ORCID: https://orcid.org/0000-0001-6832-1976)
- Jonathan E. Knikman (ORCID: https://orcid.org/0000-0002-6798-7247)
- Maaike van der Lee (ORCID: https://orcid.org/0000-0003-3344-6896)
- Marlène H. W. van de Poel
- Annemieke Cats (ORCID: https://orcid.org/0000-0001-6509-9804)
- Femke M. de Man (ORCID: https://orcid.org/0000-0001-7396-7050)
- Steven M. Offer (ORCID: https://orcid.org/0000-0002-7513-9678)
- Hans A. J. Gelderblom (ORCID: https://orcid.org/0000-0001-9270-8636)
- Frank J. Jeurissen (ORCID: https://orcid.org/0009-0005-3881-1065)
- Johanneke E.A. Portielje (ORCID: https://orcid.org/0000-0002-5169-6306)
- Henk‐Jan Guchelaar (ORCID: https://orcid.org/0000-0002-7085-1383)
- Linda M. Henricks (ORCID: https://orcid.org/0000-0003-0141-7927)
- Vincent O. Dezentjé (ORCID: https://orcid.org/0000-0001-7650-8407)
- Shikshya Shrestha (ORCID: https://orcid.org/0000-0001-9493-8814)
- Paul Hamberg (ORCID: https://orcid.org/0000-0002-8223-0250)
- Peter Nieboer
- Qinglian Zhai
- Carin A.T.C. Lunenburg (ORCID: https://orcid.org/0000-0003-0173-9803)
- Miriam Koopman (ORCID: https://orcid.org/0000-0003-1550-1978)
- Jesse J. Swen (ORCID: https://orcid.org/0000-0002-3965-5552)
- Helga Droogendijk
- Alexander L.T. Imholz
- Ron H.J. Mathijssen (ORCID: https://orcid.org/0000-0001-5667-5697)
- Stefan Böhringer (ORCID: https://orcid.org/0000-0001-9108-9212)
- Arnold Baars (ORCID: https://orcid.org/0000-0002-5196-4358)
- Rob L. H. Jansen
- Ron H. N. van Schaik
- Geert-Jan Creemers
- Caroline M.P.W. Mandigers (ORCID: https://orcid.org/0000-0001-7791-2049)
Institutions
- University of Iowa (US)
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Radboud University Nijmegen (NL)
- Utrecht University (NL)
- Leiden University Medical Center (NL)
- Catharina Ziekenhuis (NL)
- Erasmus MC (NL)
- The Netherlands Cancer Institute (NL)
- University Medical Center Utrecht (NL)
- Maastricht University (NL)
- Sint Franciscus Gasthuis (NL)
- Medisch Centrum Haaglanden (NL)
- Reinier de Graaf Hospital (NL)
- Oncode Institute (NL)
- Canisius-Wilhelmina Ziekenhuis (NL)
- Ziekenhuis Gelderse Vallei (NL)
- Mayo Clinic in Arizona (US)
- Erasmus MC Cancer Institute (NL)
- Laurentius Ziekenhuis (NL)
- Deventer Ziekenhuis (NL)
- Bravis Ziekenhuis (NL)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-08-15
- DOI
- https://doi.org/10.1186/s13073-024-01354-z
- Citations
- 11
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 6.05
Funders
- ZonMw
- Erasmus Medisch Centrum
- KWF Kankerbestrijding