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TP53 Mutation and Li-Fraumeni Syndrome

  • Chapter
Molecular Pathology in Clinical Practice

Abstract

Preeminent among human tumor suppressor genes in functionality and importance is TP53, reflected by its well-recognized characterization as “guardian of the genome.”1–5 TP53 is perhaps the most intensively studied human-cancer-associated oncoprotein, in keeping with its protean effects on critical cellular pathways, including transcriptional control of gene expression, cell cycle proliferation, DNA repair, apoptosis, and cellular maturation and differentiation.6–8 Mutational damage to TP53 is the single most common cancer DNA alteration, having been observed in more than 50% of all human cancers.9 Detection of TP53 mutation is now performed for several clinical indications including assessment of tumor biological aggressiveness, discrimination of tumor recurrence versus de novo cancer formation, determination of tumor anaplasia, and as part of a search for germline inherited mutational change associated with heightened cancer susceptibility.10,11 The emerging diagnostic and prognostic role attributed to TP53 mutation detection justifies testing in selected patients as part of the clinical molecular pathology workup of human cancer.

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Author information

Authors and Affiliations

  1. Redpath Integrated Pathology, Pittsburgh, PA, 15212, USA

    Sydney D. Finkelstein MD (Cofounder and Scientific Director)

  2. Department of Neurology, University of Pittsburgh, Pittsburgh, PA, 15232, USA

    Frank S. Lieberman MD (Associate Professor)

Authors
  1. Sydney D. Finkelstein MD
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  2. Frank S. Lieberman MD
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Editor information

Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University and New York Presbyterian Hospital, New York, NY, 10021, USA

    Debra G. B. Leonard MD, PhD (Professor and Vice Chair for Laboratory Medicine) (Professor and Vice Chair for Laboratory Medicine)

  2. Hematology, Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA

    Adam Bagg MD (Director) (Director)

  3. Department of Pathology and Laboratory Medicine, Emory University Hospital, Atlanta, GA, 30322, USA

    Angela M. Caliendo MD, PhD (Vice Chair and Associate Professor) (Vice Chair and Associate Professor)

  4. Northwestern University Feinberg School of Medicine, Evanston, IL, 60201

    Karen L. Kaul MD, PhD (Professor) (Professor)

  5. Department of Pathology and Laboratory Medicine, Evanston Northwestern Healthcare, Evanston, IL, 60201, USA

    Karen L. Kaul MD, PhD (Professor) (Professor)

  6. Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Health System, Philadelphia, PA, 19104, USA

    Vivianna M. Van Deerlin MD, PhD (Director) (Director)

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Finkelstein, S.D., Lieberman, F.S. (2007). TP53 Mutation and Li-Fraumeni Syndrome. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_22

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  • DOI: https://doi.org/10.1007/978-0-387-33227-7_22

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-33226-0

  • Online ISBN: 978-0-387-33227-7

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