Single-Nucleotide Polymorphisms of the MSH2 and MLH1 Genes, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population

Springer Science and Business Media LLC - Tập 24 - Trang 489-496 - 2017
Poliane da Silva Calixto1,2, Otávio Sérgio Lopes3,4, Mayara dos Santos Maia1,2, Sylvia Satomi Takeno Herrero1, Carlos Alberto Longui4, Cynthia Germoglio Farias Melo1, Ivan Rodrigues de Carvalho Filho5, Leonardo Ferreira Soares6, Arnaldo Correia de Medeiros7, Plínio Delatorre1,2,8, André Salim khayat9, Rommel Rodriguez Burbano9, Eleonidas Moura Lima1,2,8
1Laboratório de Biologia Molecular Estrutural e Oncogenética – LBMEO, Universidade Federal da Paraíba, João Pessoa, Brazil
2Programa de Pós-graduação em Biologia Celular e Molecular, Universidade Federal da Paraíba, João Pessoa, Brazil
3Departamento de Dermatologia, Clinica Dermatológica Santa Catarina, João Pessoa, Brazil
4Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo SP, Brazil
5Depatamento de Patologia, Laboratório de Análises Médicas – UNILAB, João Pessoa, Brazil
6Departamento de Farmácia, Universidade Estadual da Paraíba, Campina Grande, Brazil
7Departamento de Medicina, Universidade Federal da Paraíba, João Pessoa, Brazil
8Departamento de Biologia Molecular, Universidade Federal da Paraíba, João Pessoa, Brazil
9Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Brazil

Tóm tắt

Basal cell carcinoma - BCC is considered a multifactorial neoplasm involving genetic, epigenetic and environmental factors. Where UVB radiation is considered the main physical agent involved in BCC carcinogenesis. The Brazil and state of Paraíba are exposed to high levels of UVB rays. The mismatch repair - MMR is important DNA repair mechanisms to maintain replication fidelity. Therefore, single nucleotide polymorphisms (SNPs) in genes encoding proteins involved in MMR may be potential molecular markers of susceptibility to BCC. The objective of this study was to evaluate and describe for the first time the SNPs rs560246973, rs2303425 and rs565410865 and risk of developing BCC. The present study analyzed 100 samples of paraffin-embedded tissue from patients with histopathological diagnosis of BCC and 100 control samples. The results were obtained by genotyping method, Dideoxy Unique Allele Specific – PCR (DSASP). The SNPs rs2303425 were not associated with Basal Cell Carcinoma. However, the SNPs rs560246973 and rs565410865 was shown to be associated with the development of BCC when compared to control samples (P < 0.0001). The SNPs rs565410865 was also statistical significance between the genotypes of and the age group (p = 0.0027) and tumor location (p = 0,0191). The result suggests that SNPs rs2303425 and rs565410865 are associated with susceptibility to the development of BCC in the Brazilian population and may be considered as potential molecular markers for BCC.

Tài liệu tham khảo

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