title: A database of germline p53 mutations in cancer-prone families.
abstract: We created a comprehensive database covering all published cases of germline p53 mutations. The current version lists 580 tumours in 448 individuals belonging to 122 independent pedigrees. The database describes each p53 mutation (type of the mutation, exon and codon affected by the mutation, nucleotide and amino acid change), each family (family history of cancer, diagnosis of Li-Fraumeni syndrome), each affected individual (sex, generation, p53 status, from which parent the mutation was inherited) and each tumour (type, age of onset, p53 status-loss of heterozygosity, immunostaining). Each entry contains the original reference(s). The database is freely available and can be obtained from http://www.lf2.cuni.cz
authors.affiliation: Institute of Biology and Medical Genetics and Institute of Pathological Anatomy, Second Medical School, Charles University, V uvalu 84, 150 06 Prague 5, Czech Republic.
authors.forename: Z
authors.initials: Z
authors.lastname: Sedlacek
authors.forename: R
authors.initials: R
authors.lastname: Kodet
authors.forename: A
authors.initials: A
authors.lastname: Poustka
authors.forename: P
authors.initials: P
authors.lastname: Goetz
mesh_terms: D003195:Computer Communication Networks; D016208:Databases, Factual; D005260:Female; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D016247:Information Storage and Retrieval; D008297:Male; D009369:Neoplasms / Q000235:genetics*