Ontology highlight
ABSTRACT:
SUBMITTER: Davies HR
PROVIDER: S-EPMC6797807 | biostudies-other | 2019 Oct
REPOSITORIES: biostudies-other
Davies Helen R HR Hodgson Kirsty K Schwalbe Edward E Coxhead Jonathan J Sinclair Naomi N Zou Xueqing X Cockell Simon S Husain Akhtar A Nik-Zainal Serena S Rajan Neil N
Nature communications 20191017 1
Patients with CYLD cutaneous syndrome (CCS; syn. Brooke-Spiegler syndrome) carry germline mutations in the tumor suppressor CYLD and develop multiple skin tumors with diverse histophenotypes. Here, we comprehensively profile the genomic landscape of 42 benign and malignant tumors across 13 individuals from four multigenerational families and discover recurrent mutations in epigenetic modifiers DNMT3A and BCOR in 29% of benign tumors. Multi-level and microdissected sampling strikingly reveal that ...[more]