Document Detail


Cowden syndrome.
MedLine Citation:
PMID:  17920899     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cowden syndrome (CS), due to germline mutations of the PTEN tumor-suppressor gene, is an often overlooked cancer predisposition syndrome associated with an increased risk of breast, thyroid, and endometrial cancers, as well as benign manifestations. Germline PTEN mutations also are associated with syndromes that have not been historically connected to an increase in risk for malignancy. These disorders include Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome (PSL). These syndromes can be described under the umbrella of PTEN hamartoma tumor syndrome (PHTS). As one would expect in allelic disorders, there is broad phenotypic overlap in the PHTS; however, the syndromes are clinically distinct. As additional information is discovered about new syndromes of cancer predisposition and their concordant genes, oncologists and allied healthcare providers must maintain vigilance to appropriately identify, and screen, individuals at an increased risk. Although CS is the only PHTS with a clearly documented predisposition to malignancies, pending further data, for precautionary reasons all individuals with a germline PTEN mutation are recommended to follow the cancer surveillance recommendations for CS.
Authors:
Shanna Gustafson; Kevin M Zbuk; Cheryl Scacheri; Charis Eng
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Seminars in oncology     Volume:  34     ISSN:  0093-7754     ISO Abbreviation:  Semin. Oncol.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-10-08     Completed Date:  2007-11-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0420432     Medline TA:  Semin Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  428-34     Citation Subset:  IM    
Affiliation:
Center for Personalized Genetic Healthcare, Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
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MeSH Terms
Descriptor/Qualifier:
Germ-Line Mutation / genetics*
Hamartoma Syndrome, Multiple / genetics*
Humans
PTEN Phosphohydrolase / genetics*
Proteus Syndrome / genetics*
Syndrome
Chemical
Reg. No./Substance:
EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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