p53 germline mutations in Li-Fraumeni syndrome

• Published in: The Lancet (British edition) Vol. 338; no. 8781; pp. 1490 - 1491
• Main Authors: Santibáñez-Koref, M.F., Birch, J.M., Hartley, A.L., Crowther, D., Harris, M., Morris Jones, P.H., Kelsey, A.M., Craft, A.W., Eden, T.
• Format: Journal Article
• Language: English
• Published: London Elsevier Ltd 14.12.1991; Lancet; Elsevier Limited
• Subjects: Adolescent; Adult; Base Sequence; Biological and medical sciences; Child; Child, Preschool; DNA - analysis; Female; Genes, p53 - genetics; Genetics; Humans; Infant; Lesions; Li-Fraumeni Syndrome - genetics; Medical disorders; Medical research; Medical sciences; Middle Aged; Molecular Sequence Data; Multiple tumors. Solid tumors. Tumors in childhood (general aspects); Mutation; Mutation - genetics; Polymerase Chain Reaction - methods; Polymorphism, Genetic - genetics; Tumors; Human; Codon; Sarcoma; Nucleotide sequence; Genetics; Mutation; Malignant tumor
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/0140-6736(91)92303-J

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.