Article
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Clinical cancer research : an official journal of the American Association for Cancer Research - 1 Jun 2017
Kratz Christian P, Achatz Maria Isabel, Brugières Laurence, Frebourg Thierry, Garber Judy E, Greer Mary-Louise C, Hansford Jordan R, Janeway Katherine A, Kohlmann Wendy K, McGee Rose, Mullighan Charles G, Onel Kenan, Pajtler Kristian W, Pfister Stefan M, Savage Sharon A, Schiffman Joshua D, Schneider Katherine A, Strong Louise C, Evans D Gareth R, Wasserman Jonathan D, Villani Anita, Malkin David
Abstract excerpt
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...
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