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Lack of CHEK2 gene mutations in differentiated thyroid carcinoma patients using high resolution melting analysis
Shima Fayaz1, Pezhman Fard-Esfahani, Peyman Mohammadi Torbati
1Department of Biochemistry, Pasteur Institute of Iran, Tehran, Iran
Abstract:
Recently, mutations in the genes involved in cell cycle control, including CHEK2, are being considered as etiological factors in different kinds of cancers. The CHEK2 protein plays an important role in protecting damaged DNA from entering mitosis. In this study the potential effects of two common mutations IVS2+1G?A and Ile157Thr of CHEK2 gene in differentiated thyroid carcinoma (DTC) were evaluated. A total of 100 patients admitted to the Research Institute for Nuclear Medicine were diagnosed with DTC based on pathology reports of surgery samples. An additional 100 people were selected as a control group with no cancer history. PCR-HRM (high resolution melting) analysis was performed to deal with each of mutations in all case and control samples separately. During the analysis of IVS2+1G?A and Ile157Thr mutations of CHEK2 gene in the case and control groups, all the samples were identified as wild homozygote type. The finding suggests that IVS2+1G?A and Ile157Thr mutations of CHEK2 gene do not constitute a risk factor for DTC in the Iranian population. However, further studies with a larger population are required to confirm the outcome.
Insights
Common CHEK2 gene mutations (IVS2+1G?A and Ile157Thr) were not found to be risk factors for differentiated thyroid carcinoma (DTC) in the Iranian population. Further research with larger sample sizes is recommended to confirm these findings.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- The CHEK2 gene plays a crucial role in cell cycle control and DNA damage response.
- Mutations in cell cycle control genes, including CHEK2, are implicated in various cancers.
- Differentiated thyroid carcinoma (DTC) is a significant endocrine malignancy.
Purpose of the Study:
- To investigate the association between two common CHEK2 gene mutations (IVS2+1G?A and Ile157Thr) and the risk of differentiated thyroid carcinoma (DTC).
- To evaluate the potential etiological role of these CHEK2 mutations in DTC development within the Iranian population.
Main Methods:
- Case-control study involving 100 DTC patients and 100 cancer-free controls from the Iranian population.
- Polymerase Chain Reaction-High Resolution Melting (PCR-HRM) analysis was employed to detect IVS2+1G?A and Ile157Thr mutations in the CHEK2 gene.
- Genotyping was performed on all samples from both case and control groups.
Main Results:
- All 100 DTC patients and 100 control individuals exhibited wild homozygote genotypes for both the IVS2+1G?A and Ile157Thr mutations in the CHEK2 gene.
- No significant difference in the frequency of these specific CHEK2 mutations was observed between the DTC patient group and the control group.
Conclusions:
- The studied IVS2+1G?A and Ile157Thr mutations of the CHEK2 gene do not appear to be risk factors for differentiated thyroid carcinoma (DTC) in the Iranian population.
- These findings suggest that other genetic or environmental factors may play a more significant role in the etiology of DTC in this population.
- Larger-scale studies are warranted to definitively confirm the lack of association and explore other potential CHEK2 variants or related pathways in DTC pathogenesis.
