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Frequency of the DPYD * 2A allele in the Czech population

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The pyrimidine analogue (5-FU) is widely used for chemotherapy of many solid tumors, such as colorectal, breast, head/neck, ovarian and skin cancer... Individuals with low DPD activity (about 3-5% of patients) cannot effectively inactivate 5-FU and will develop severe to lethal hematological, gastrointestinal or neurological toxicities... It was recommended that screening for DPYD*2A should be routinely carried out prior to start of 5-FU therapy, and that heterozygotes should receive limited dose of 5-FU only, while homozygotes, who are at high risk to develop severe complications, should be treated with alternative therapeutic drugs. 212 males and 210 females (the age of tested patients was 18-69 years) of the Czech population were tested... The material of DNA isolation was obtained oral mucosa by Flocked Swabs or by taking incoagulable peripheral venous blood... DNA was isolated by using QIAmp DNA Minikit or by the semi-automatic isolation DNA QuickGene 810... Were compared to results of both methods with each other and assessed allele frequency in the Czech population... DPYD * 2A allele was demonstrated in a heterozygous state in 3/422 (0.7%), in the homozygous state was not found... Czech frequency of DPYP * 2A allele 0.36% is 2.5 times lower than the reported frequency 0.91% in the European population... The results of both methods were completely identical.... Low frequency of DPYD * 2A allele in the Czech population assumes the presence of other mutations in the DPYD gene and in other genes affecting the metabolism of 5-FU (eg... TYMS, MTHFR). by 5-FU, because are suitable the lower doses in the heterozygotes and choose other chemotherapy for the homozygotes with risk of toxic reaction.

No MeSH data available.


Analysis of mutation IVS14+1 G>A DPYD gene by methods
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Figure 1: Analysis of mutation IVS14+1 G>A DPYD gene by methods

Mentions: 212 males and 210 females (the age of tested patients was 18-69 years) of the Czech population were tested. The material of DNA isolation was obtained oral mucosa by Flocked Swabs or by taking incoagulable peripheral venous blood. DNA was isolated by using QIAmp DNA Minikit or by the semi-automatic isolation DNA QuickGene 810. Mutation IVS14+1 G>A DPYD gene (DPYD * 2 allele) was tested by using certificated method strip assay (PGX-5FU) and by new created method High-Resolution Melting (HRM) (Figure1). Were compared to results of both methods with each other and assessed allele frequency in the Czech population.


Frequency of the DPYD * 2A allele in the Czech population
Analysis of mutation IVS14+1 G>A DPYD gene by methods
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4125808&req=5

Figure 1: Analysis of mutation IVS14+1 G>A DPYD gene by methods
Mentions: 212 males and 210 females (the age of tested patients was 18-69 years) of the Czech population were tested. The material of DNA isolation was obtained oral mucosa by Flocked Swabs or by taking incoagulable peripheral venous blood. DNA was isolated by using QIAmp DNA Minikit or by the semi-automatic isolation DNA QuickGene 810. Mutation IVS14+1 G>A DPYD gene (DPYD * 2 allele) was tested by using certificated method strip assay (PGX-5FU) and by new created method High-Resolution Melting (HRM) (Figure1). Were compared to results of both methods with each other and assessed allele frequency in the Czech population.

View Article: PubMed Central - HTML

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

The pyrimidine analogue (5-FU) is widely used for chemotherapy of many solid tumors, such as colorectal, breast, head/neck, ovarian and skin cancer... Individuals with low DPD activity (about 3-5% of patients) cannot effectively inactivate 5-FU and will develop severe to lethal hematological, gastrointestinal or neurological toxicities... It was recommended that screening for DPYD*2A should be routinely carried out prior to start of 5-FU therapy, and that heterozygotes should receive limited dose of 5-FU only, while homozygotes, who are at high risk to develop severe complications, should be treated with alternative therapeutic drugs. 212 males and 210 females (the age of tested patients was 18-69 years) of the Czech population were tested... The material of DNA isolation was obtained oral mucosa by Flocked Swabs or by taking incoagulable peripheral venous blood... DNA was isolated by using QIAmp DNA Minikit or by the semi-automatic isolation DNA QuickGene 810... Were compared to results of both methods with each other and assessed allele frequency in the Czech population... DPYD * 2A allele was demonstrated in a heterozygous state in 3/422 (0.7%), in the homozygous state was not found... Czech frequency of DPYP * 2A allele 0.36% is 2.5 times lower than the reported frequency 0.91% in the European population... The results of both methods were completely identical.... Low frequency of DPYD * 2A allele in the Czech population assumes the presence of other mutations in the DPYD gene and in other genes affecting the metabolism of 5-FU (eg... TYMS, MTHFR). by 5-FU, because are suitable the lower doses in the heterozygotes and choose other chemotherapy for the homozygotes with risk of toxic reaction.

No MeSH data available.