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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

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Pathology & Oncology Research

Abstract

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.

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Acknowledgements

The authors would like to thank Jimmy Johnson for proofreading the article.

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Authors and Affiliations

  1. Laboratório de Biologia Molecular Estrutural e Oncogenética – LBMEO, Universidade Federal da Paraíba, João Pessoa, PB, Brazil

    Poliane da Silva Calixto, Mayara dos Santos Maia, Sylvia Satomi Takeno Herrero, Cynthia Germoglio Farias Melo, Plínio Delatorre & Eleonidas Moura Lima

  2. Programa de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal da Paraíba, João Pessoa, PB, Brazil

    Poliane da Silva Calixto, Mayara dos Santos Maia, Plínio Delatorre & Eleonidas Moura Lima

  3. Departamento de Dermatologia, Clinica Dermatológica Santa Catarina, João Pessoa, PB, Brazil

    Otávio Sérgio Lopes

  4. Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo SP, Brazil

    Otávio Sérgio Lopes & Carlos Alberto Longui

  5. Depatamento de Patologia, Laboratório de Análises Médicas – UNILAB, João Pessoa, PB, Brazil

    Ivan Rodrigues de Carvalho Filho

  6. Departamento de Farmácia, Universidade Estadual da Paraíba, Campina Grande, PB, Brazil

    Leonardo Ferreira Soares

  7. Departamento de Medicina, Universidade Federal da Paraíba, João Pessoa, PB, Brazil

    Arnaldo Correia de Medeiros

  8. Departamento de Biologia Molecular, Universidade Federal da Paraíba, João Pessoa, PB, Brazil

    Plínio Delatorre & Eleonidas Moura Lima

  9. Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, PA, Brazil

    André Salim khayat & Rommel Rodriguez Burbano

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  1. Poliane da Silva Calixto
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  2. Otávio Sérgio Lopes
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  3. Mayara dos Santos Maia
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  4. Sylvia Satomi Takeno Herrero
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  6. Cynthia Germoglio Farias Melo
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  7. Ivan Rodrigues de Carvalho Filho
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  9. Arnaldo Correia de Medeiros
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  13. Eleonidas Moura Lima
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Corresponding author

Correspondence to Eleonidas Moura Lima.

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Funding

This work was supported by grants of CAPES, CNPq and Clinica Dermatológica Santa Catarina; João Pessoa - PB – Brasil.

Ethical Approval

The present study is part of the thematic project approved by the Ethics Committee of the University Hospital Lauro Wanderley - UFPB under the code CAAE: 36,522,614.2.3001.5883.

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da Silva Calixto, P., Lopes, O.S., dos Santos Maia, M. et al. 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. Pathol. Oncol. Res. 24, 489–496 (2018). https://doi.org/10.1007/s12253-017-0265-8

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  • DOI: https://doi.org/10.1007/s12253-017-0265-8

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