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p53 germline mutations in Li-Fraumeni syndrome

Lookup NU author(s): Dr Mauro Santibanez Koref, Emeritus Professor Alan Craft


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Germline mutations within a defined region of the p53 gene have recently been found in families with the Li-Fraumeni syndrome (LFS). In the present study this region of p53 was sequenced in affected individuals from 8 families with LFS. In only 2 of them were such mutations detected. Our findings suggest that the p53 mutation could be the primary lesion in some but not all families with LFS, and confirm that there is a "hot spot" for these mutations at the CpG dinucleotide moiety of codon 248. Assigning risks and counselling families on the basis of presence of p53 mutations should be approached with caution.

Publication metadata

Author(s): Santibanez-Koref, M. F., Birch, J. M., Hartley, A. L., Jones, P. H. M. , Craft, A. W., Eden, T., Crowther, D., Kelsey, A. M., Harris, M.

Publication type: Note

Publication status: Published

Journal: The Lancet

Year: 1991

Volume: 338

Issue: 8781

Pages: 1490-1491

Print publication date: 14/12/1991

ISSN (print): 0140-6736

ISSN (electronic): 1474-547X


DOI: 10.1016/0140-6736(91)92303-J

PubMed id: 1683921