Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites

Br J Cancer. 2001 Jan 5;84(1):116-9. doi: 10.1054/bjoc.2000.1530.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / genetics*
  • Cohort Studies
  • Conserved Sequence / genetics*
  • Female
  • Finland / ethnology
  • Genes, p53 / genetics*
  • Germ-Line Mutation / genetics*
  • Humans
  • Neoplastic Syndromes, Hereditary / genetics*
  • Pedigree
  • Tumor Suppressor Protein p53 / genetics*


  • Tumor Suppressor Protein p53