Genetic polymorphisms as non-modifiable susceptibility factors to laryngeal cancer

• Published in: Bioscience reports 2020-05, Vol.40 (5)
• Main Authors: Escalante, Paula, Barría, Tamara, Cancino, Miguel, Rahal, Maritza, Cerpa, Leslie, Sandoval, Christopher, Molina-Mellico, Sebastian, Suárez, Marcelo, Martínez, Matias, Cáceres, Dante Daniel, Quiñones, Luis Abel, Varela, Nelson Miguel
• Format: Article
• Language: English
• Subjects: Aged; Alcohol Drinking - epidemiology; Biomarkers, Tumor - genetics; Cancer; Case-Control Studies; Chile - epidemiology; Cigarette Smoking - epidemiology; Cyclooxygenase 2 - genetics; Epidermal Growth Factor - genetics; ErbB Receptors - genetics; Female; Genetic Predisposition to Disease; Humans; Laryngeal Neoplasms - epidemiology; Laryngeal Neoplasms - genetics; Male; Middle Aged; Molecular Bases of Health & Disease; Polymorphism, Single Nucleotide; Respiratory System; Risk Factors; Squamous Cell Carcinoma of Head and Neck - epidemiology; Squamous Cell Carcinoma of Head and Neck - genetics; Tumor Suppressor Protein p53 - genetics
• ISSN: 0144-8463; 1573-4935
• DOI: 10.1042/BSR20191188

Laryngeal squamous cell carcinoma (LSCC) is a highly disabling disease to the patient, affecting speech, swallowing and respiratory skills. Smoking and alcohol abuse are principal risk factors linked to this disease. Genetic factors can be involved in carcinogenesis by controlling the cell cycle, cell survival, angiogenesis, and invasiveness. Single nucleotide polymorphisms (SNPs) involving specific genes could modulate the risk of LSCC related to known carcinogens by modifying cellular responses, but not all genetic associations are known. In a case-control study, we assess the associations between cyclooxygenase-2 (COX2), epidermal growth factor (EGF), EGF receptor (EGFR), and tumor suppressor P53 SNPs on the risk of LSCC development in the Chilean population. A total of 85 LSCC patients and 95 healthy volunteers were recruited. SNPs genotype were analyzed from genomic DNA by Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (RFLP) and associations were estimated by odds ratios (ORs) using unconditional logistic regressions. A significant association between COX2 and TP53 SNP and LSCC risk was found, with an OR = 3.27 for COX2 c.-1329A>G (rs689466) SNP, and an OR = 1.94 for TP53 c.215C>G, Pro72Arg (rs1042522) SNP. These findings suggest that COX2 c.-1329A>G and TP53 c.215C>G (Pro72Arg) SNPs may be risk factors for LSCC. Through this research, we identify two low penetrance genetic variants that may be evaluated as novel biomarkers for this disease, in South American Mestizo populations.