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PTEN loss in the continuum of common cancers, rare syndromes and mouse models

Open access
Hollander, M. Christine, Blumenthal, Gideon M., Dennis, Phillip A.·2011·Nature Reviews Cancer

Abstract

PTEN is among the most frequently inactivated tumour suppressor genes in sporadic cancer. PTEN has dual protein and lipid phosphatase activity, and its tumour suppressor activity is dependent on its lipid phosphatase activity, which negatively regulates the PI3K–AKT–mTOR pathway. Germline mutations in PTEN have been described in a variety of rare syndromes that are collectively known as the PTEN hamartoma tumour syndromes (PHTS). Cowden syndrome is the best-described syndrome within PHTS, with approximately 80% of patients having germline PTEN mutations. Patients with Cowden syndrome have an increased incidence of cancers of the breast, thyroid and endometrium, which correspond to sporadic tumour types that commonly exhibit somatic PTEN inactivation. Pten deletion in mice leads to Cowden syndrome-like phenotypes, and tissue-specific Pten deletion has provided clues to the role of PTEN mutation and loss in specific tumour types. Studying PTEN in the continuum of rare syndromes, common cancers and mouse models provides insight into the role of PTEN in tumorigenesis and will inform targeted drug development.

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Metadata

Authors
Hollander, M. C., Blumenthal, G. M., & Dennis, P. A.
Venue
Nature Reviews Cancer
Published
2011-03-24
Volume
11
Issue
4
Pages
289-301
ISSN
  • 1474-175X (ISSN-L)
  • 1474-1768
OpenAlex
W1996222881
Cited by
794
References
20
FWCI
5.11
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: PTEN loss in the continuum of common cancers, rare syndromes and mouse models. https://app.cochat.ai/papers/10.1038/nrc3037
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Hollander, M. C., Blumenthal, G. M., & Dennis, P. A. (2011). PTEN loss in the continuum of common cancers, rare syndromes and mouse models. Nature Reviews Cancer. https://doi.org/10.1038/nrc3037

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