The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Dec. 04, 2018
Filed:
Jan. 04, 2012
Bert Vogelstein, Baltimore, MD (US);
Kenneth W Kinzler, Baltimore, MD (US);
Victor Velculescu, Dayton, MD (US);
Luis Diaz, Ellicott City, MD (US);
Nikolas Papadopoulos, Towson, MD (US);
Yuchen Jiao, Columbia, MD (US);
Ralph Hruban, Baltimore, MD (US);
Bert Vogelstein, Baltimore, MD (US);
Kenneth W Kinzler, Baltimore, MD (US);
Victor Velculescu, Dayton, MD (US);
Luis Diaz, Ellicott City, MD (US);
Nikolas Papadopoulos, Towson, MD (US);
Yuchen Jiao, Columbia, MD (US);
Ralph Hruban, Baltimore, MD (US);
The Johns Hopkins University, Baltimore, MD (US);
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.