Document Detail


Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome.
MedLine Citation:
PMID:  18794875     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M S Orloff; C Eng
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Oncogene     Volume:  27     ISSN:  1476-5594     ISO Abbreviation:  Oncogene     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-09-16     Completed Date:  2008-10-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8711562     Medline TA:  Oncogene     Country:  England    
Other Details:
Languages:  eng     Pagination:  5387-97     Citation Subset:  IM    
Affiliation:
Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
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MeSH Terms
Descriptor/Qualifier:
Animals
Genetic Heterogeneity*
Genomics / trends
Germ-Line Mutation / physiology
Hamartoma Syndrome, Multiple / diagnosis,  genetics*
Humans
Mice
Mice, Knockout
Models, Biological
PTEN Phosphohydrolase / genetics*
Phenotype
Proteomics / trends
Transcription Factors / genetics
Chemical
Reg. No./Substance:
0/Transcription Factors; 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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