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Targeted Therapy in Locally Advanced and Recurrent/Metastatic Head and Neck Squamous Cell Carcinoma (LA-R/M HNSCC)
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Cancers 2019, 11(4), 493;

Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population

Medical Oncology Service, University Hospital of Salamanca-IBSAL, 37007 Salamanca, Spain
Biomedical Research Institute of Salamanca (IBSAL), SACYL-University of Salamanca-CSIC, 37007 Salamanca, Spain
Molecular Medicine Unit- IBSAL, Department of Medicine, University of Salamanca-CSIC, 37007 Salamanca, Spain
Institute of Molecular and Cellular Biology of Cancer (IBMCC), University of Salamanca-CSIC, Salamanca 37007, Spain
Medical Oncology Service, Hospital Universitario Politécnico La Fe, 46026 Valencia, Spain
Division of Medical Oncology, Oncology department, Agencia Sanitaria Hospital Costa del Sol, 29603 de Marbella, Spain
Medical Oncology Department, Universitat de Barcelona, IDIBELL, Institut Català d’Oncologia, L’Hospitalet de Llobregat, 08908 Barcelona, Spain
Medical Oncology Service, Hospital Regional Universitario de Málaga, 29010 Málaga, Spain
Otolaryngology Agencia Sanitaria Hospital Costa del Sol, 29603 de Marbella, Spain
Hospital Clínico San Carlos, IdISSC, CIBERONC, 28040 Madrid, Spain
Centro Regional de Investigaciones Biomédicas, Universidad de Castilla La Mancha, 13071 Albacete, Spain
Authors to whom correspondence should be addressed.
Received: 7 March 2019 / Revised: 2 April 2019 / Accepted: 4 April 2019 / Published: 7 April 2019
(This article belongs to the Special Issue Head and Neck Cancer)
PDF [268 KB, uploaded 7 April 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. View Full-Text
Keywords: head and neck cancer; single nucleotide polymorphisms; Spanish population head and neck cancer; single nucleotide polymorphisms; Spanish population
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Fernández-Mateos, J.; Seijas-Tamayo, R.; Adansa Klain, J.C.; Pastor Borgoñón, M.; Pérez-Ruiz, E.; Mesía, R.; del Barco, E.; Salvador Coloma, C.; Rueda Dominguez, A.; Caballero Daroqui, J.; Fernández Ruiz, E.; Ocana, A.; González-Sarmiento, R.; Cruz-Hernández, J.J. Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population. Cancers 2019, 11, 493.

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