Somatic Mutations in TP53 Gene in Colombian Patients With Non-melanoma Skin Cancer

哥伦比亚非黑色素瘤皮肤癌患者 TP53 基因体细胞突变

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作者:Luz Dary Gutiérrez-Castañeda #, John Nova, María Irene Cerezo-Cortés #

Aim

Non-melanoma skin cancer is the most common cancer in the world. Somatic mutations in the TP53 gene are associated with the development of this cancer. To describe mutations in exons 5-8 of the TP53 gene in a sample of Colombian patients with non-melanoma skin cancer. Materials and

Conclusion

The analysis showed that Colombian individuals with non-melanoma skin cancer have genetic TP53 variants different from those reported as recurrent for this disease.

Methods

One hundred and fifteen patients with non-melanoma skin cancer were included. Exons 5-8 were amplified and analyzed by PCR-High Resolution Melting and Sanger sequencing.

Results

Fifty-seven patients with basal cell carcinomas and 58 with squamous cell carcinomas were studied. 16% of patients with basal cell carcinoma and 26% of patients with squamous cell carcinoma had mutations in the TP53 gene. The most frequent mutations were substitutions, while three patients had deletions. The most frequent mutation was p.R158G.

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