title: Alterations in genes encoding sarcoplasmic-endoplasmic reticulum Ca(2+) pumps in association with head and neck squamous cell carcinoma.
abstract: Recent studies have suggested that a perturbation of intracellular Ca(2+) homeostasis or signaling could contribute to cancer development. The purpose of this study was to evaluate whether germline variants of the ATP2A2 and ATP2A3 genes might act as susceptibility alleles in head and neck squamous cell carcinoma. In both genes, we identified eight different alterations in 11 patients with head and neck squamous cell carcinoma (11/79; P = 0.0002, odds ratio = 0.054, 95% confidence interval = 0.0069-0.4236). We also detected low expression level of both genes in connection with some of alterations, but could not correlate low expression level with methylation in the promoter region of either gene. The results suggest that Ca(2+) pumps of sarcoplasmic-endoplasmic reticulum are involved in an increased susceptibility to develop head and neck squamous cell carcinoma in humans.
authors.affiliation: Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia.
authors.forename: Branka
authors.initials: B
authors.lastname: Korosec
authors.forename: Damjan
authors.initials: D
authors.lastname: Glavac
authors.forename: Metka
authors.initials: M
authors.lastname: Volavsek
authors.forename: Metka
authors.initials: M
authors.lastname: Ravnik-Glavac
mesh_terms: D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008745:Methylation; D008969:Molecular Sequence Data; D011401:Promoter Regions, Genetic; D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases / Q000235:genetics*
chemical_list: D053498:Sarcoplasmic Reticulum Calcium-Transporting ATPases; C506946:ATP2A2 protein, human; C506949:ATP2A3 protein, human