Titill: | DPYD, TYMS and MTHFR Genes Polymorphism Frequencies in a Series of Turkish Colorectal Cancer Patients |
Höfundur: |
|
Útgáfa: | 2018-12-13 |
Tungumál: | Enska |
Umfang: | 45 |
Háskóli/Stofnun: | Háskóli Íslands University of Iceland |
Svið: | Heilbrigðisvísindasvið (HÍ) School of Health Sciences (UI) |
Deild: | Læknadeild (HÍ) Faculty of Medicine (UI) |
Birtist í: | Journal of Personalized Medicine;8(4) |
ISSN: | 2075-4426 |
DOI: | 10.3390/jpm8040045 |
Efnisorð: | Colorectal cancer; DPYD; Pharmacogenetics; Polymorphisms; TYMS and MTHFR gene; Krabbamein; Lyfjameðferð; Lyfjafræði; Erfðafræði |
URI: | https://hdl.handle.net/20.500.11815/1210 |
Tilvitnun:Amirfallah A, Calibasi Kocal G, Unal OU, Ellidokuz H, Oztop I, Basbinar Y. DPYD, TYMS and MTHFR Genes Polymorphism Frequencies in a Series of Turkish Colorectal Cancer Patients. Journal of Personalized Medicine. 2018; 8(4):45. doi:10.3390/jpm8040045
|
|
Útdráttur:Fluoropyrimidine-based chemotherapy is extensively used for the treatment of solid
cancers, including colorectal cancer. However, fluoropyrimidine-driven toxicities are a major problem
in the management of the disease. The grade and type of the toxicities depend on demographic factors,
but substantial inter-individual variation in fluoropyrimidine-related toxicity is partly explained by
genetic factors. The aim of this study was to investigate the effect of dihydropyrimidine dehydrogenase
(DPYD), thymidylate synthase (TYMS), and methylenetetrahydrofolate reductase (MTHFR) polymorphisms
in colorectal cancer patients. Eighty-five patients who were administered fluoropyrimidine-based
treatment were included in the study. The DPYD, TYMS and MTHFR polymorphisms were scanned
by a next generation Sequenom MassARRAY. Fluoropyrimidine toxicities were observed in 92%
of all patients. The following polymorphisms were detected: DPYD 85T>C (29.4% heterozygote
mutants, 7.1% homozygote mutants), DPYD IVS 14+1G>A (1.2% heterozygote mutants), TYMS
1494del TTAAAG (38.4% heterozygote mutants, 24.7% homozygote mutants), MTHFR 677C>T (43.5%
heterozygote mutants, 9.4% homozygote mutants) and MTHFR 1298A>C (8.2% heterozygote mutants,
2.4% homozygote mutants). A statistically significant association was demonstrated between MTHFR
677C>T and fluoropyrimidine-related toxicity (p value = 0.007). Furthermore, MTHFR 1298A>C
was associated with hematopoietic toxicity (p value = 0.008). MTHFR polymorphisms may be
considered as related factors of fluoropyrimidine toxicity and may be useful as predictive biomarkers
for the determination of the colorectal cancer patients who can receive the greatest benefit from
fluoropyrimidine-based treatments.
|
|
Athugasemdir:Publisher's version (útgefin grein)
|
|
Leyfi:This article is an open access
article distributed under the terms and conditions of the Creative Commons Attribution
(CC BY) license (http://creativecommons.org/licenses/by/4.0/).
|