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01-07-2018 | Original Article

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

Authors: 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 Lima

Published in: Pathology & Oncology Research | Issue 3/2018

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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Title: 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
Authors: 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 Lima
Publication date: 01-07-2018
Publisher: Springer Netherlands
Published in: Pathology & Oncology Research / Issue 3/2018
Print ISSN: 1219-4956
Electronic ISSN: 1532-2807
DOI: https://doi.org/10.1007/s12253-017-0265-8

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