Ontology highlight
ABSTRACT:
SUBMITTER: Fishbein L
PROVIDER: S-EPMC5643159 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Fishbein Lauren L Leshchiner Ignaty I Walter Vonn V Danilova Ludmila L Robertson A Gordon AG Johnson Amy R AR Lichtenberg Tara M TM Murray Bradley A BA Ghayee Hans K HK Else Tobias T Ling Shiyun S Jefferys Stuart R SR de Cubas Aguirre A AA Wenz Brandon B Korpershoek Esther E Amelio Antonio L AL Makowski Liza L Rathmell W Kimryn WK Gimenez-Roqueplo Anne-Paule AP Giordano Thomas J TJ Asa Sylvia L SL Tischler Arthur S AS Pacak Karel K Nathanson Katherine L KL Wilkerson Matthew D MD
Cancer cell 20170202 2
We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involvi ...[more]