http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2019055610-A1

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filingDate 2018-11-02-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_eae03c4f7ad1af212458cf3abc9f64d5
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publicationDate 2019-02-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2019055610-A1
titleOfInvention Genes frequently altered in pancreatic neuroendocrine tumors
abstract Pancreatic Neuroendocrine Tumors (PanNETs) are a rare but clinically important form of pancreatic neoplasia. To explore the genetic basis of PanNETs, we determined the exomic sequences of ten non-familial PanNETs and then screened the most commonly mutated genes in 58 additional PanNETs. Remarkably, the most frequently mutated genes specify proteins implicated in chromatin remodeling: 44% of the tumors had somatic inactivating mutations in MEN-1, which encodes menin, a component of a histone methyltransferase complex; and 43% had mutations in genes encoding either of the two subunits of a transcription/chromatin remodeling complex consisting of DAXX (death-domain associated protein) and ATRX (alpha thalassemia/mental retardation syndrome X-linked). Clinically, mutations in the MEN1 and DAXX/ATRX genes were associated with better prognosis. We also found mutations in genes in the mTOR (mammalian target of rapamycin) pathway in 14% of the tumors, a finding that could potentially be used to stratify patients for treatment with mTOR inhibitors.
priorityDate 2011-01-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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