Article
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.
Genes, chromosomes & cancer - 1 Sept 2015
Juhlin C Christofer, Stenman Adam, Haglund Felix, Clark Victoria E, Brown Taylor C, Baranoski Jacob, Bilguvar Kaya, Goh Gerald, Welander Jenny, Svahn Fredrika, Rubinstein Jill C, Caramuta Stefano, Yasuno Katsuhito, Günel Murat, Bäckdahl Martin, Gimm Oliver, Söderkvist Peter, Prasad Manju L, Korah Reju, Lifton Richard P, Carling Tobias
Abstract excerpt
As subsets of pheochromocytomas (PCCs) lack a defined molecular etiology, we sought to characterize the mutational landscape of PCCs to identify novel gene candidates involved in disease development. A discovery cohort of 15 PCCs wild type for mutations in PCC susceptibility genes underwent whole-exome sequencing, and an additional 83 PCCs served as a verification cohort for targeted sequencing of candidate...
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