[Germline mutations of the p53 gene].

Abstract excerpt

Germline mutations of the p53 gene are associated to the Li-Fraumeni, a rare autosomal dominant syndrome characterized by a wide spectrum of tumours including sarcomas, breast carcinomas, brain tumors and adrenocortical carcinomas. In most of the cases, tumours will develop in children and young...

Topics

• Gene Expression Regulation, Neoplastic
• Genes, p53
• Genetic Predisposition to Disease
• Germ-Line Mutation
• Humans
• Li-Fraumeni Syndrome
• Phenotype