Abstract IA30: BAF complex structure and function in development and disease

Recent exon-wide sequencing studies in human cancer have revealed a striking frequency of mutations in the genes encoding subunits of the mSWI/SNF (BAF) ATP-dependent chromatin remodeling complexes we recently determined these mutations to be broadly recurrent in over 20% of all human cancers. To investigate the underlying mechanism, our group has studied rare, genomically well-defined cancer types, namely human synovial sarcoma (SS) in which 100% of tumors have a precise translocation involving a specific subunit, SS18, and BAF47-deficient malignant rhabdoid tumors. The utility of these disease settings has provided us with a powerful foundation upon which to understand the oncogenic mechanisms directed by altered structure and function of chromatin remodeling complexes. Here, we present studies focused on BAF complex pathway-of-assembly, complex subunit and associated protein factor composition of oncogenic BAF complexes, and mechanisms underlying BAF and polycomb opposition.Citation Format: Cigall Kadoch. BAF complex structure and function in development and disease. [abstract]. In: Proceedings of the AACR Special Conference: Developmental Biology and Cancer; Nov 30-Dec 3, 2015; Boston, MA. Philadelphia (PA): AACR; Mol Cancer Res 2016;14(4_Suppl):Abstract nr IA30.
Source: Molecular Cancer Research - Category: Cancer & Oncology Authors: Tags: EMT and Plasticity: Oral Presentations - Invited Abstracts Source Type: research