Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population.
Javier Fernández-MateosRaquel Seijas-TamayoJuan Carlos Adansa KlainMiguel Pastor BorgoñónElisabeth Perez-RuizRicard MesíaElvira Del BarcoCarmen Salvador ColomaAntonio Rueda DominguezJavier Caballero DaroquiEncarnación Fernández RuizAlberto OcanaRogelio González SarmientoJuan Jesús Cruz-HernándezPublished in: Cancers (2019)
Despite classical environmental risk factors like tobacco, alcohol or viral infection, not all individuals develop head and neck cancer. Therefore, identification of the genetic susceptibility produced by single nucleotide polymorphisms (SNPs) is an important task. A total of 296 human papillomavirus negative head and neck cancer (HNC) patients (126 laryngeal, 100 pharyngeal and 70 oral cavity) were included in the study, involving 29 candidate SNPs in genes within important carcinogenic pathways (oncogenesis and tumour suppression, DNA repair, inflammation, oxidation and apoptosis). Genotyping was performed using TaqMan probes or restriction fragment length assays in peripheral blood DNA. In addition, 259 paired controls were also evaluated with the same risk factors for each specific location. Nine SNPs in DNA repair (ERCC1 rs11615, ERCC2 rs13181), inflammatory (IL2 rs2069762, IL6 rs1800795), oxidative (NFE2L2 rs13035806 and rs2706110) and apoptotic genes (TP53 rs1042522, MDM2 rs2279744, BCL2 rs2279115) were differently associated with HNSCC susceptibility by location. Some of these SNPs were not described before in this tumour type. In conclusion, we describe several SNPs associated with HNC in a Spanish population.
Keyphrases
- dna repair
- genome wide
- dna damage
- oxidative stress
- risk factors
- dna methylation
- peripheral blood
- end stage renal disease
- dna damage response
- small molecule
- chronic kidney disease
- copy number
- gene expression
- ejection fraction
- single molecule
- newly diagnosed
- photodynamic therapy
- single cell
- cell cycle arrest
- risk assessment
- nucleic acid