title: Identification of Fas (APO-1/CD95) and p53 gene mutations in non-small cell lung cancer.
abstract: Fas (APO-1/CD95) is a broadly expressed death receptor involved in a series of physiological and pathological apoptotic processes. One of the possible mechanisms for resistance to apoptosis signaling in the immune system as well as in the pathogenesis of non-lymphoid malignancies is the presence of Fas mutations within the entire gene. We investigated, in 79 non-small cell lung cancer (NSCLC) samples, the promoter and the entire coding region of the Fas gene by polymerase chain reaction, single strand conformation polymorphism and DNA sequencing in order to detect putative alterations. Sixteen of 79 tumor samples (20.2%) were found to have Fas alterations, either in promoter or exon region. Since the loss of Fas apoptotic function might be linked to p53 alterations, which are often involved in the development of NSCLC, we analyzed p53 status in 40 of the 79 NSCLC samples. p53 mutations were found to be more frequently present than Fas gene alterations (25 out of 40 cases, 62.5%). These data increase the knowledge regarding mutations of apoptosis-genes involved in the pathogenesis of NSCLC, and give benefits for the clinical management of this type of tumor.
authors.affiliation: Department of Oncology, Transplants and Advanced Technologies in Medicine, Pisa, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Boldrini
authors.forename: P
authors.initials: P
authors.lastname: Faviana
authors.forename: S
authors.initials: S
authors.lastname: Gisfredi
authors.forename: D
authors.initials: D
authors.lastname: Di Quirico
authors.forename: M
authors.initials: M
authors.lastname: Lucchi
authors.forename: A
authors.initials: A
authors.lastname: Mussi
authors.forename: C A
authors.initials: CA
authors.lastname: Angeletti
authors.forename: F
authors.initials: F
authors.lastname: Baldinotti
authors.forename: A
authors.initials: A
authors.lastname: Fogli
authors.forename: P
authors.initials: P
authors.lastname: Simi
authors.forename: F
authors.initials: F
authors.lastname: Basolo
authors.forename: F
authors.initials: F
authors.lastname: Pingitore
authors.forename: G
authors.initials: G
authors.lastname: Fontanini
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000378:metabolism; D000595:Amino Acid Sequence; D001483:Base Sequence; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics* / Q000378:metabolism; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D012689:Sequence Homology, Nucleic Acid; D019014:fas Receptor / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D019014:fas Receptor