AffiliationPaterson Institute for Cancer Research, Christie NHS Trust, Manchester, UK. email@example.com
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AbstractThere 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 general, the spectrum of mutations that has been detected in the germline reflects that found in tumors, although there are some notable exceptions in certain tumor types. Detailed knowledge of the pedigrees allows a comprehensive analysis of genotype-phenotype correlations and an understanding of the tumors that are associated with germline TP53 mutations. This review will discuss the spectrum of mutations and the methods for mutation detection, the tumors associated with inheritance of a germline mutation, and some of the ethical and clinical problems in patients with a germline TP53 mutation.
CitationGermline TP53 mutations and Li-Fraumeni syndrome. 2003, 21 (3):313-20 Hum. Mutat.
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- Issue date: 2010 Jun
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- Issue date: 1998 Sep 3
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- Authors: Palmero EI, Achatz MI, Ashton-Prolla P, Olivier M, Hainaut P
- Issue date: 2010 Jan
- The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.
- Authors: Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI, Vargas FR, Da Rocha JC, Vettore AL, Hainaut P
- Issue date: 2007 Jan 8
- Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.
- Authors: Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA
- Issue date: 2003 Oct 15