| http://purl.uniprot.org/citations/23246288 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23246288 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23246288 | http://www.w3.org/2000/01/rdf-schema#comment | "Cowden syndrome (CS) is a difficult-to-recognize multiple hamartoma syndrome with high risks of breast, thyroid, and other cancers. Germline mutations in PTEN on 10q23 were found to cause 85% of CS when accrued from tertiary academic centers, but prospective accrual from the community over the last 12 years has revealed a 25% PTEN mutation frequency. PTEN is the phosphatase that has been implicated in a heritable cancer syndrome and subsequently in multiple sporadic cancers and developmental processes. PTEN antagonizes the AKT1/PI3K signaling pathway and has roles in cell cycle, migration, cell polarity, and apoptosis. We report that 8 of 91 (8.8%) unrelated CS individuals without germline PTEN mutations carried 10 germline PIK3CA mutations (7 missense, 1 nonsense, and 2 indels) and 2 (2.2%) AKT1 mutations. These mutations result in significantly increased P-Thr308-AKT and increased cellular PIP3. Our observations suggest that PIK3CA and AKT1 are CS susceptibility genes."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.10.021"xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.10.021"xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Chen F."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Chen F."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "He X."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "He X."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Peterson C."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Peterson C."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Eng C."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Eng C."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Chen J.L."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Chen J.L."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Mester J.L."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Mester J.L."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Orloff M.S."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/author | "Orloff M.S."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/pages | "76-80"xsd:string |
| http://purl.uniprot.org/citations/23246288 | http://purl.uniprot.org/core/pages | "76-80"xsd:string |