| Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. | |
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MedLine Citation:
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PMID: 18794875 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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M S Orloff; C Eng |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Oncogene Volume: 27 ISSN: 1476-5594 ISO Abbreviation: Oncogene Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2008-09-16 Completed Date: 2008-10-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8711562 Medline TA: Oncogene Country: England |
Other Details:
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Languages: eng Pagination: 5387-97 Citation Subset: IM |
Affiliation:
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Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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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