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Br J Cancer. Jan 2001; 84(1): 116–119.
Published online Jan 1, 2001. doi:  10.1054/bjoc.2000.1530
PMCID: PMC2363618
Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites
K Rapakko,1 M Allinen,1 K Syrjäkoski,2 P Vahteristo,3 P Huusko,1 K Vähäkangas,4 H Eerola,3,5 T Kainu,2 O-P Kallioniemi,2 H Nevanlinna,3 and R Winqvist1,6
1Departments of Clinical Genetics, 6Oncology and Radiotherapy, and 4Pharmacology and Toxicology, University of Oulu/Oulu University Hospital, Oulu, Finland
2Laboratory of Cancer Genetics, Institute of Medical Technology, Tampere University Hospital, Tampere, Finland
3Departments of Obstetrics and Gynaecology, 5Oncology, Helsinki University Central Hospital, Helsinki, Finland
Equal contribution
Received July 5, 2000; Revised September 15, 2000; Accepted September 19, 2000.
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. © 2001 Cancer Research Campaign http://www.bjcancer.com
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