Pathology & Oncology Research

, Volume 24, Issue 3, pp 489–496 | Cite as

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

  • Poliane da Silva Calixto
  • Otávio Sérgio Lopes
  • Mayara dos Santos Maia
  • Sylvia Satomi Takeno Herrero
  • Carlos Alberto Longui
  • Cynthia Germoglio Farias Melo
  • Ivan Rodrigues de Carvalho Filho
  • Leonardo Ferreira Soares
  • Arnaldo Correia de Medeiros
  • Plínio Delatorre
  • André Salim khayat
  • Rommel Rodriguez Burbano
  • Eleonidas Moura LimaEmail author
Original Article


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.


Basal cell carcinoma Mismatch repair Single nucleotide polymorphism DSASP Genotyping Molecular markers 



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

Compliance with Ethical Standards

Conflict of Interest



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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Copyright information

© Arányi Lajos Foundation 2017

Authors and Affiliations

  • Poliane da Silva Calixto
    • 1
    • 2
  • Otávio Sérgio Lopes
    • 3
    • 4
  • Mayara dos Santos Maia
    • 1
    • 2
  • Sylvia Satomi Takeno Herrero
    • 1
  • Carlos Alberto Longui
    • 4
  • Cynthia Germoglio Farias Melo
    • 1
  • Ivan Rodrigues de Carvalho Filho
    • 5
  • Leonardo Ferreira Soares
    • 6
  • Arnaldo Correia de Medeiros
    • 7
  • Plínio Delatorre
    • 1
    • 2
    • 8
  • André Salim khayat
    • 9
  • Rommel Rodriguez Burbano
    • 9
  • Eleonidas Moura Lima
    • 1
    • 2
    • 8
    Email author
  1. 1.Laboratório de Biologia Molecular Estrutural e Oncogenética – LBMEOUniversidade Federal da ParaíbaJoão PessoaBrazil
  2. 2.Programa de Pós-Graduação em Biologia Celular e MolecularUniversidade Federal da ParaíbaJoão PessoaBrazil
  3. 3.Departamento de Dermatologia, Clinica Dermatológica Santa CatarinaJoão PessoaBrazil
  4. 4.Programa de Pós-Graduação em Ciências da Saúde, Faculdade de Ciências Médicas da Santa Casa de São PauloSão Paulo SPBrazil
  5. 5.Depatamento de PatologiaLaboratório de Análises Médicas – UNILABJoão PessoaBrazil
  6. 6.Departamento de FarmáciaUniversidade Estadual da ParaíbaCampina GrandeBrazil
  7. 7.Departamento de MedicinaUniversidade Federal da ParaíbaJoão PessoaBrazil
  8. 8.Departamento de Biologia MolecularUniversidade Federal da ParaíbaJoão PessoaBrazil
  9. 9.Instituto de Ciências BiológicasUniversidade Federal do ParáBelémBrazil

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