Biomarkers /
SMARCA4
Overview
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4) is a gene that encodes a protein that functions in the regulation of transcription via its helicase and ATPase activity. Missense mutations, nonsense mutations, silent mutations, and in-frame deletions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.
SMARCA4 is altered in 4.59% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].
The most common alterations in SMARCA4 are SMARCA4 Mutation (3.78%), SMARCA4 Amplification (0.28%), SMARCA4 Loss (0.10%), SMARCA4 T910M (0.09%), and SMARCA4 R1192H (0.04%) [3].
Clinical Trials
Significance of SMARCA4 in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.