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Analysis of D1853N ATM polymorphism in radiosensitive patients with cervical carcinoma
Martin Beránek1, Monika Drastíková, Simona Paulíková
1Institute of Clinical Biochemistry and Diagnostics, Charles University in Prague, Faculty of Medicine and University Hospital Hradec Králové, Czech Republic. beranek@lfhk.cuni.cz
Unlabelled:
Clinical oncologists have been focusing their efforts on attempting to define risk groups of patients with unusual biological reactions to the recommended therapy regimens using molecular biology techniques.
The Aims Of Our Study Were:
(i) to find a design and validate a method for fast and reliable analysis of the D1853N (5557G>A) genetic polymorphism in the ATM (ataxia-telangiectasia mutated) gene; (ii) to use side-directed mutagenesis to generate ATM 5557A-positive DNA (reference ATM5557A DNA); and (iii) to analyze a group of patients suffering from cervical carcinoma with adverse responses to radiotherapy. The 5557A variant was found in three of twenty women (15%). Our data show that the prevalence of the 5557A allelic variant in cervical cancer subjects with adverse responses after irradiation probably does not differ from the prevalence common in Caucasians. A larger population study should confirm these preliminary results.
Insights
Researchers developed a method to analyze a genetic polymorphism in the ATM gene. The study found the 5557A variant in cervical cancer patients with adverse radiotherapy responses, suggesting similar prevalence to Caucasians.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Clinical oncologists aim to identify patient risk groups based on biological reactions to therapies.
- Molecular biology techniques are crucial for understanding these unusual reactions.
Purpose of the Study:
- To design and validate a method for analyzing the D1853N (5557G>A) genetic polymorphism in the ATM gene.
- To generate ATM 5557A-positive DNA using site-directed mutagenesis.
- To analyze the prevalence of the ATM 5557A variant in cervical cancer patients experiencing adverse radiotherapy responses.
Main Methods:
- Development and validation of a genetic analysis method for the ATM gene polymorphism (D1853N, 5557G>A).
- Utilizing site-directed mutagenesis to create reference ATM 5557A DNA.
- Genotyping cervical cancer patients with adverse radiotherapy outcomes.
Main Results:
- The ATM 5557A variant was detected in 15% (3 out of 20) of the analyzed cervical cancer patients.
- Preliminary data suggest the prevalence of the 5557A allelic variant in this patient group is comparable to that in the general Caucasian population.
Conclusions:
- The developed method allows for fast and reliable analysis of the ATM 5557G>A polymorphism.
- Further larger population studies are needed to confirm the prevalence of the ATM 5557A variant in cervical cancer patients with adverse radiotherapy responses.
