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Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome

Oncogene volume 27, pages 5387–5397 (2008)Cite this article

Abstract

Germline PTEN (Phosphatase and TENsin homologue deleted on chromosome TEN) mutations predispose to phenotypically diverse disorders that share several overlapping clinical features: Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome, collectively classified as PTEN hamartoma tumour syndrome (PHTS). The meticulous acquisition and documentation of PHTS phenotypic data at different levels and the profiling of the plethora of genetic changes in PTEN and other genes within the same or related pathways are important in resolving the challenge of discriminating heritable cancers from sporadic PHTS-mimicking clinical features. The characterization of PTEN and PTEN-related pathways from a multidisciplinary perspective underscores the importance of incorporating data from different -omics, which is crucial for the advancement of personalized medicine.

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Acknowledgements

CE is a recipient of the Doris Duke Distinguished Clinical Scientist Award, holds the Sondra J & Stephen R Hardis Chair in Cancer Genomic Medicine at the Cleveland Clinic and is an Honorary Fellow of the Cancer Research UK Human Cancer Genetics Research Group, University of Cambridge, UK.

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  1. Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH, USA

    M S Orloff & C Eng

  2. Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, USA

    C Eng

  3. Taussig Cancer Center, Cleveland Clinic Foundation, Cleveland, OH, USA

    C Eng

  4. Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH, USA

    C Eng

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Orloff, M., Eng, C. Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene 27, 5387–5397 (2008). https://doi.org/10.1038/onc.2008.237

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