da Silva Calixto Poliane, Lopes Otávio Sérgio, Dos Santos Maia Mayara, Herrero Sylvia Satomi Takeno, Longui Carlos Alberto, Melo Cynthia Germoglio Farias, de Carvalho Filho Ivan Rodrigues, Soares Leonardo Ferreira, de Medeiros Arnaldo Correia, Delatorre Plínio, Khayat André Salim, Burbano Rommel Rodriguez, Lima Eleonidas Moura
Laboratório de Biologia Molecular Estrutural e Oncogenética - LBMEO, Universidade Federal da Paraíba, João Pessoa, PB, Brazil.
Programa de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal da Paraíba, João Pessoa, PB, Brazil.
Pathol Oncol Res. 2018 Jul;24(3):489-496. doi: 10.1007/s12253-017-0265-8. Epub 2017 Jun 30.
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.
基底细胞癌——BCC被认为是一种涉及遗传、表观遗传和环境因素的多因素肿瘤。其中，UVB辐射被认为是参与BCC致癌作用的主要物理因素。巴西和帕拉伊巴州暴露于高水平的UVB射线之下。错配修复——MMR是维持复制保真度的重要DNA修复机制。因此，编码参与MMR的蛋白质的基因中的单核苷酸多态性（SNP）可能是BCC易感性的潜在分子标志物。本研究的目的是首次评估和描述SNP rs560246973、rs2303425和rs565410865与发生BCC的风险。本研究分析了100例经组织病理学诊断为BCC的患者的石蜡包埋组织样本和100例对照样本。结果通过双脱氧独特等位基因特异性PCR（DSASP）基因分型方法获得。SNP rs2303425与基底细胞癌无关。然而，与对照样本相比，SNP rs560246973和rs565410865显示与BCC的发生有关（P<0.0001）。SNP rs565410865在基因型与年龄组（p=0.0027）和肿瘤位置（p=0.0191）之间也具有统计学意义。结果表明，SNP rs2303425和rs565410865与巴西人群中BCC发生的易感性有关，可能被视为BCC的潜在分子标志物。
