Ontology highlight
ABSTRACT:
SUBMITTER: Juhlin CC
PROVIDER: S-EPMC4755142 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Juhlin C Christofer CC Stenman Adam A Haglund Felix F Clark Victoria E VE Brown Taylor C TC Baranoski Jacob J Bilguvar Kaya K Goh Gerald G Welander Jenny J Svahn Fredrika F Rubinstein Jill C JC Caramuta Stefano S Yasuno Katsuhito K Günel Murat M Bäckdahl Martin M Gimm Oliver O Söderkvist Peter P Prasad Manju L ML Korah Reju R Lifton Richard P RP Carling Tobias T
Genes, chromosomes & cancer 20150529 9
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 mutations. A low rate of nonsilent single nucleotide variants (SNVs) was detected (6.1/sa ...[more]