Single Nucleotide Polymorphisms in XPD and XPF Genes and Their Association with Actinic Cheilitis: A Narrative Literature Review

Abstract

Introduction: Actinic cheilitis (AC) is a potentially malignant lesion that primarily affects the lower lip, caused by chronic exposure to ultraviolet B (UVB) radiation, which induces DNA damage such as pyrimidine dimer formation. These lesions are repaired by the nucleotide excision repair (NER) pathway, involving proteins encoded by the XPD and XPF genes. Objective: This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) in the XPD and XPF genes and the predisposition to the development of AC. Methodology: A narrative literature review was conducted through a systematic search in the PubMed, ScienceDirect, and SciELO databases, applying inclusion and exclusion criteria, and selecting 20 articles for analysis. Results: The review indicated that SNPs in the XPD gene, such as rs13181 (Lys751Gln) and rs1799793 (Asp312Asn), are associated with an increased risk of oral cancer, although results remain contradictory; polymorphisms in the XPF gene were also observed, but their functional impact is still unclear. Conclusion: The presence of these SNPs may impair DNA repair efficiency and contribute to AC progression. However, the scarcity of specific studies limits the understanding of the genetic mechanisms involved, highlighting the need for more robust investigations to identify genetic biomarkers that may support the diagnosis, prognosis, and treatment of AC.

Keywords: Oral Diseases; Actinic Cheilitis; Single Nucleotide Polymorphisms; XPD; XPF; Biomarkers.