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p53 germline mutations in Li-Fraumeni syndrome

✍ Scribed by 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.

Book ID: 123319915
Publisher: The Lancet
Year: 1991
Tongue: English
Weight: 299 KB
Volume: 338
Category: Article
ISSN: 0140-6736
DOI: 10.1016/0140-6736(91)92303-J

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There are now reports of nearly 250 independent germline TP53 (p53) mutations in over 100 publications. Such mutations are typically associated with Li-Fraumeni or Li-Fraumeni-like syndrome, although many have been identified in cohorts of patients with tumors considered to be typical of LFS. In gen