Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites.
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.
Rapakko
K
K
Department of Clinical Genetics, University of Oulu/Oulu University Hospital, Oulu, Finland.
Allinen
M
M
Syrjäkoski
K
K
Vahteristo
P
P
Huusko
P
P
Vähäkangas
K
K
Eerola
H
H
Kainu
T
T
Kallioniemi
O P
OP
Nevanlinna
H
H
Winqvist
R
R
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*
D016159:Tumor Suppressor Protein p53