title: Familial gastric cancer and Li-Fraumeni syndrome.
abstract: Gastric cancer occurs in some familial diseases with inherited cancer predisposition. Genetic factors have been correlated with the hereditary diffuse gastric cancer and other familial gastric cancer conditions as hereditary non-polyposis colorectal cancer and Li-Fraumeni syndrome. The present study was aimed at searching for germ line mutations of TP53 gene in familial gastric cancer with cluster for Li-Fraumeni syndrome or Li-Fraumeni-like syndrome. Twenty-three pedigrees with characteristics for Li-Fraumeni-like syndrome were identified. DNA of the proband was sequenced using polymerase chain reaction/single-strand conformation polymorphism. Among these 23 cases, no germ line mutation of TP53 was identified, while two single-nucleotide polymorphisms were identified in four patients. In our area, in which a high rate of familial aggregation was demonstrated, the lack of germ line mutation of TP53 together with the infrequency of mutation of E-cadherin gene seem to limit the role of genetic predisposition in the development of gastric cancer.
authors: Department of Human Pathology and Oncology, Unit of Surgical Oncology, Translational Research Laboratory, University of Siena Istituto Toscano Tumori, Siena, Italy.
authors: G
authors: G
authors: Corso
authors: C
authors: C
authors: Pedrazzani
authors: D
authors: D
authors: Marrelli
authors: E
authors: E
authors: Pinto
authors: F
authors: F
authors: Roviello
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005190:Family; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D013274:Stomach Neoplasms / Q000235:genetics*