Cancer screening recommendations for individuals with Li-Fraumeni syndrome
- Kratz, C.
- Achatz, M.
- Brugieres, L.
- Frebourg, T.
- Garber, J.
- Greer, M.-L.
- Hansford, J.
- Janeway, K.
- Kohlmann, W.
- Mcgee, R.
- Mullighan, C.
- Onel, K.
- Pajtler, K.
- Pfister, S.
- Savage, S.
- Schiffman, J.
- Schneider, K.
- Strong, L.
- Evans, D.
- Wasserman, J.
- et al.
DOIAbstract
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. Loss of p53 function renders affected individuals highly susceptible to a broad range of solid and hematologic cancers. It has recently become evident that children and adults with LFS benefit from intensive surveillance aimed at early tumor detection. In October 2016, the American Association for Cancer Research held a meeting of international LFS experts to evaluate the current knowledge on LFS and propose consensus surveillance recommendations. Herein, we briefly summarize clinical and genetic ...
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