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.

Highlights

  • Thyroid cancer is the most common malignant tumor of endocrine glands in the world and it is the 7th most common cancer in females, 14th in the males and the 11th most frequent cancer in both sexes in Iranian population (Khayamzadeh et al, 2011)

  • Based on the significant association between mutations of IVS2+1G"A, Ile157Thr of CHEK2 gene and various cancers, the present study aimed to evaluate the genetic changes in differentiated thyroid cancer

  • The prevalence of IVS2+1G"A, Ile157Thr mutations of CHEK2 gene was evaluated by High Resolution Melting (HRM) Analysis among patients and controls

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Summary

Introduction

Thyroid cancer is the most common malignant tumor of endocrine glands in the world and it is the 7th most common cancer in females, 14th in the males and the 11th most frequent cancer in both sexes in Iranian population (Khayamzadeh et al, 2011). Differentiated thyroid cancer is the sum of papillary follicular types consisting of almost 90% of total malignancies of thyroid gland (Hundahl et al, 1998). Based on the recent progress in molecular sciences, various relations between the genetic changes and various cancers have been proposed. The tissues with impaired control ability in cell cycle become cancerous. Mutation in the genes involved in the cell cycle control including CHEK2 is considered in different kinds of cancers (Cybulski et al, 2004)

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