Ontology highlight
ABSTRACT:
SUBMITTER: Fishbein L
PROVIDER: S-EPMC4302757 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Nature communications 20150121
Pheochromocytomas and paragangliomas (PCC/PGL) are the solid tumour type most commonly associated with an inherited susceptibility syndrome. However, very little is known about the somatic genetic changes leading to tumorigenesis or malignant transformation. Here we perform whole-exome sequencing on a discovery set of 21 PCC/PGL and identify somatic ATRX mutations in two SDHB-associated tumours. Targeted sequencing of a separate validation set of 103 PCC/PGL identifies somatic ATRX mutations in ...[more]