The DOI matches its Crossref record; 70 of the 70 references it cites were found in a registry or an index.
PTEN hamartoma tumor syndromes
Open accessAbstract
The PTEN hamartoma tumor syndromes (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the tumor suppressor PTEN. These syndromes are driven by cellular overgrowth, leading to benign hamartomas in virtually any organ. Cowden syndrome (CS), the prototypic PHTS syndrome, is associated with increased susceptibility to breast, thyroid, and endometrial cancer. PTEN is located on chromosome 10q22–23 and negatively regulates the prosurvival PI3K/Akt/mTOR pathway through its lipid phosphatase activity. Loss of PTEN activates this pathway and leads to increased cellular growth, migration, proliferation, and survival. Clinical management of patients with PHTS, particularly those with CS, should include early and frequent screening, surveillance, and preventive care for associated malignancies. Concomitant with improved understanding of the biology of PTEN and the PI3K/Akt/mTOR pathway, inhibitors of this pathway are being developed as anticancer agents. These medications could have applications for patients with PHTS, for whom no medical options currently exist.
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American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography
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Portrait of the PI3K/AKT pathway in colorectal cancer
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Cowden Syndrome: A Critical Review of the Clinical Literature
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WWP2 is an E3 ubiquitin ligase for PTEN
Maddika, S., Kavela, S., Rani, N., Palicharla, V. R., Pokorny, J. L., Sarkaria, J. N., & Chen, J. (2011) · Nature Cell Biology · doi:10.1038/ncb2240 · Cited by 305
Metadata
- Authors
- Blumenthal, G. M., & Dennis, P. A.
- Venue
- European Journal of Human Genetics
- Published
- 2008-09-10
- Volume
- 16
- Issue
- 11
- Pages
- 1289-1300
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W2010288342
- Cited by
- 327
- References
- 70
- FWCI
- 6.45
- Type
- journal article
- Language
- en
- Open access
- bronze
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