title: Thyroid papillary carcinoma: preliminary evidence for a germ-line single nucleotide polymorphism in the Fas gene.
abstract: The expression of Fas in thyroid tumours and Graves' disease was analysed by mRNA transcript expression. As compared with unaffected thyroid tissue, Fas expression was enhanced in Graves' disease, adenomas, and papillary and follicular carcinomas. This pattern was also reflected in immunohistochemical studies. The PCR single-strand conformational polymorphism (SSCP) method and DNA sequencing were used to analyse Fas exons 1-9. The study was carried out on five different histotypes of thyroid tumours (n=93) and tissue from Graves' disease patients. As compared with a group of healthy blood donors (n=64), a significant association (P=0.006) emerged between papillary thyroid carcinoma and a silent single nucleotide polymorphism (SNP, 988C-->T) in exon 7 of the Fas gene. Other forms of thyroid pathology were not associated with the above polymorphism. Patients with neoplasia showed the same SNP in tumour tissue, in the unaffected contralateral thyroid lobe, and in peripheral blood cells. Thus, the 988C-->T polymorphism appeared to be of germ-line origin.
authors.affiliation: Dipartimento di Oncologia, Università degli Studi di Pisa, 57, Via Roma 56126, Pisa, Italy. f.basolo@do.med.unipi.it
authors.forename: F
authors.initials: F
authors.lastname: Basolo
authors.forename: R
authors.initials: R
authors.lastname: Giannini
authors.forename: P
authors.initials: P
authors.lastname: Faviana
authors.forename: G
authors.initials: G
authors.lastname: Fontanini
authors.forename: A
authors.initials: A
authors.lastname: Patricelli Malizia
authors.forename: C
authors.initials: C
authors.lastname: Ugolini
authors.forename: R
authors.initials: R
authors.lastname: Elisei
authors.forename: P
authors.initials: P
authors.lastname: Miccoli
authors.forename: A
authors.initials: A
authors.lastname: Toniolo
mesh_terms: D000236:Adenoma / Q000378:metabolism*; D002291:Carcinoma, Papillary / Q000378:metabolism*; D018265:Carcinoma, Papillary, Follicular; D016022:Case-Control Studies; D018095:Germ-Line Mutation; D006111:Graves Disease / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D013964:Thyroid Neoplasms / Q000378:metabolism*; D019014:fas Receptor / Q000032:analysis / Q000235:genetics*
chemical_list: D019014:fas Receptor