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

K Rapakko; M Allinen; K Syrjäkoski; P Vahteristo; P Huusko; K Vähäkangas; H Eerola; T Kainu; O P Kallioniemi; H Nevanlinna; R Winqvist

doi:10.1054/bjoc.2000.1530

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.

Authors

K Rapakko¹, M Allinen, K Syrjäkoski, P Vahteristo, P Huusko, K Vähäkangas, H Eerola, T Kainu, O P Kallioniemi, H Nevanlinna, R Winqvist

Affiliation

¹ Department of Clinical Genetics, University of Oulu/Oulu University Hospital, Oulu, Finland.

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.

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*

Substances

Tumor Suppressor Protein p53