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Br J Cancer. 2001 January; 84(1): 116–119.
Published online 2001 January 1. 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


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

Keywords: hereditary breast cancer, TP53 mutations, Li-Fraumeni syndrome

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