SMARCA5
Overview
SMARCA5 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily A, Member 5) encodes SNF2H, an ATP-dependent chromatin remodelling factor and catalytic subunit of the ISWI chromatin remodelling complexes. It is involved in replication, repair, and transcriptional regulation. In cancer genomics, SMARCA5 has been identified as a chromatin remodelling gene affected by somatic mutation in adenoid cystic carcinoma of the breast (breast AdCC).
Alterations observed in the corpus
- Somatic mutation identified in breast AdCC (adenoid cystic carcinoma of the breast); listed among non-passenger cancer-related gene mutations alongside BRAF, FBXW7, SF3B1, FGFR2, RASA1, PTPN11, and MTOR in WES of 12 tumours (0.27 non-silent mutations/Mb) PMID:26095796
Cancer types (linked)
- ACBC: somatic mutation in 1 of 12 breast AdCC tumours; cohort had a low overall mutation rate (0.27 non-silent mutations/Mb) PMID:26095796
Co-occurrence and mutual exclusivity
Therapeutic relevance
Open questions
- The functional consequence and recurrence rate of SMARCA5 mutation in breast AdCC are unknown given the small cohort (n=12) PMID:26095796
Sources
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