Association of Single-Nucleotide Polymorphisms of Gene XPC with Susceptibility to Basal Cell Carcinoma in Brazilian Population

• Published in: Skin (Milwood, N.Y.) Vol. 7; no. 1; pp. 570 - 580
• Main Authors: Dos Santos Maia, Mayara, Sérgio Lopes, Otávio, Da Silva Calixto, Poliane, Satomi Takeno Herrero, Sylvia, Monteiro de Souza, Augusto, Alberto Longui, Carlos, Rodrigues de Carvalho Filho, Ivan, Ferreira Soares, Leonardo, Delatorre, Plínio, Barbosa da Silva, Renally, Calcagno, Danielle, Rodriguez Burbano, Rommel, Moura Lima, Eleonidas
• Format: Journal Article
• Language: English
• Published: 10-01-2023
• ISSN: 2574-1624; 2574-1624
• DOI: 10.25251/skin.7.1.2

Background: Basal cell carcinoma (BCC) is the common neoplasm in humans and its main etiological factor is exposure to solar radiation. Mutations in repair genes can lead to tumor progression and loss of cell integrity leading to the onset of cancer. Nucleotide excision repair (NER) is an important mechanism primarily used to repair injuries caused by UV.
Objective: To evaluate and describe for the first time the single nucleotide polymorphisms rs745769173, rs761106780 and rs535425175 and risk of developing BCC.
Methods: 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) and molecular modeling.
Results: The SNP rs535425175 of the XPC gene showed a significant association with the BCC in the analyzed samples (P <0.005) and molecular docking showed different binding energy of the complex between the XPC region 99-156 and the PH domain of TFIIH p62, being more negative, -710.53 kcal/mol, with the Asn residue at position 108 and less negative, -611.10 kcal/mol, with Lys residue related to the polymorphism.
Conclusion: The results suggest that the SNP rs535425175 of the XPC gene, which causes mutation at codon 108 of the XPC protein, which consists of replacing the Ans residue with the Lys, may be considered a risk factor associated with the development of BCC.