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Title: Genetic Susceptibility in Head and Neck Squamous Cell Carcinoma in a Spanish Population
Author: Fernández Mateos, Javier
Seijas Tamayo, Raquel
Adansa Klain, Juan Carlos
Pastor Borgoñón, Miguel
Pérez Ruiz, Elisabeth
Mesía Nin, Ricard
Barco, Elvira del
Salvador Coloma, Carmen
Rueda Dominguez, Antonio
Caballero Daroqui, Javier
Fernández Ruiz, Encarnación
Ocana, Alberto
González Sarmiento, Rogelio
Cruz Hernández, Juan Jesús
Keywords: Genètica
Càncer de cap
Càncer de coll
Head cancer
Neck cancer
Issue Date: 1-Apr-2019
Publisher: MDPI
Abstract: 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.
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It is part of: Cancers, 2019, vol. 11, num. 4
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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