title: Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.
abstract: We have screened for germline TP53 mutations in Finnish BRCA1 and BRCA2 mutation-negative families. This study represents the largest survey of the entire protein-encoding portion of TP53, and indicates that mutations are only found at conserved domains in breast cancer families also meeting the criteria for Li-Fraumeni/Li-Fraumeni-like syndrome, explaining only a very small additional fraction of the hereditary breast cancer cases.
authors.affiliation: Department of Clinical Genetics, University of Oulu/Oulu University Hospital, Oulu, Finland.
authors.forename: K
authors.initials: K
authors.lastname: Rapakko
authors.forename: M
authors.initials: M
authors.lastname: Allinen
authors.forename: K
authors.initials: K
authors.lastname: Syrjäkoski
authors.forename: P
authors.initials: P
authors.lastname: Vahteristo
authors.forename: P
authors.initials: P
authors.lastname: Huusko
authors.forename: K
authors.initials: K
authors.lastname: Vähäkangas
authors.forename: H
authors.initials: H
authors.lastname: Eerola
authors.forename: T
authors.initials: T
authors.lastname: Kainu
authors.forename: O P
authors.initials: OP
authors.lastname: Kallioniemi
authors.forename: H
authors.initials: H
authors.lastname: Nevanlinna
authors.forename: R
authors.initials: R
authors.lastname: Winqvist
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics*; D015331:Cohort Studies; D017124:Conserved Sequence / Q000235:genetics*; D005260:Female; D005387:Finland / Q000208:ethnology; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D010375:Pedigree; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D016159:Tumor Suppressor Protein p53