BAZ1A
Overview
BAZ1A (bromodomain and PHD finger containing, associated with chromatin remodeling) is a subunit of the ISWI chromatin-remodeling complex. It has been identified as a recurrently mutated chromatin regulator in gynaecologic carcinosarcomas.
Alterations observed in the corpus
- Mutated in 4/22 (18%) uterine/ovarian carcinosarcoma cases; first report of BAZ1A mutation in carcinosarcoma PMID:25233892
Cancer types (linked)
- UCS / MXOV: BAZ1A mutated in 18% of gynaecologic carcinosarcomas, establishing it as a recurrent chromatin-remodeling target in this cancer type PMID:25233892
Co-occurrence and mutual exclusivity
- Occurs in the broader context of frequent chromatin remodeling gene mutations (ARID1A, ARID1B, KMT2C, KMT2D) in gynaecologic carcinosarcomas PMID:25233892
Therapeutic relevance
- No direct targeted therapy for BAZ1A; chromatin remodeling defects in carcinosarcoma may sensitize to PARP inhibitors or epigenetic therapies PMID:25233892
Open questions
- The functional consequence of BAZ1A mutations (loss-of-function vs gain-of-function) in carcinosarcoma has not been characterized PMID:25233892
Sources
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