Kummer, Dominic; Fröhlich, Tanja; Joerger, Markus; Aebi, Stefan; Sistonen, Johanna; Amstutz, Ursula; Largiadèr, Carlo Rodolfo (2015). Dihydropyrimidinase and β-ureidopropionase gene variation and severe fluoropyrimidine-related toxicity. Pharmacogenomics, 16(12), pp. 1367-1377. Future Medicine 10.2217/pgs.15.81
Full text not available from this repository.AIMS
To assess the association of DPYS and UPB1 genetic variation, encoding the catabolic enzymes downstream of dihydropyrimidine dehydrogenase, with early-onset toxicity from fluoropyrimidine-based chemotherapy.
PATIENTS & METHODS
The coding and exon-flanking regions of both genes were sequenced in a discovery subset (164 patients). Candidate variants were genotyped in the full cohort of 514 patients.
RESULTS & CONCLUSIONS
Novel rare deleterious variants in DPYS (c.253C > T and c.1217G > A) were detected once each in toxicity cases and may explain the occurrence of severe toxicity in individual patients, and associations of common variants in DPYS (c.1-1T > C: padjusted = 0.003; OR = 2.53; 95% CI: 1.39-4.62, and c.265-58T > C: padjusted = 0.039; OR = 0.61; 95% CI: 0.38-0.97) with 5-fluorouracil toxicity were replicated.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry |
Graduate School: |
Graduate School for Cellular and Biomedical Sciences (GCB) |
UniBE Contributor: |
Fröhlich, Tanja, Aebi, Stefan, Sistonen, Johanna, Amstutz, Ursula, Largiadèr, Carlo Rodolfo |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1462-2416 |
Publisher: |
Future Medicine |
Language: |
English |
Submitter: |
Ursula Amstutz |
Date Deposited: |
03 Nov 2015 14:55 |
Last Modified: |
05 Dec 2022 14:49 |
Publisher DOI: |
10.2217/pgs.15.81 |
PubMed ID: |
26244261 |
Uncontrolled Keywords: |
5-fluorouracil; DPYS; UPB1; capecitabine; dihydropyrimidinase; fluoropyrimidine; gene variation; pharmacogenomics; toxicity; β-ureidopropionase |
URI: |
https://boris.unibe.ch/id/eprint/72419 |
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