Ontology highlight
ABSTRACT:
SUBMITTER: Martin KR
PROVIDER: S-EPMC5481739 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Nature communications 20170615
Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR activation; however, second hits to TSC1/TSC2 are not always observed. Here, we present the genomic landscape of TSC hamartomas. We determine that TSC lesions contain a low somatic mutational burden ...[more]