Abstract
Germline mutations of PTEN, a tumor suppressor gene, cause a spectrum of autosomal-dominant hamartoma tumor syndrome overgrowth disorders, including Cowden syndrome (CS, MIM#158350) ( 1 LoPiccolo J. Ballas M.S. Dennis P.A. PTEN hamartomatous tumor syndromes (PHTS): rare syndromes with great relevance to common cancers and targets drug development. Crit Rev Oncol Hematol. 2007; 63: 203-214 Abstract Full Text Full Text PDF PubMed Scopus (18) Google Scholar ). Consensus diagnostic criteria for CS and guidelines for screening of cancer (breast, endometrium, thyroid, kidney, and skin) have been developed by the National Comprehensive Cancer Network (NCCN) ( 2 National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian. Clinical Practice Guidelines in Oncology. Version 1.2009 (pdf). Available at: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed on May 11, 2009. Google Scholar ). Somatic loss of PTEN has been described in sporadic counterpart tumors of CS as well as sporadic tumors not a component of CS: glioblastoma multiforme, melanoma, lung, pancreas, bladder, colon, and prostate.
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