Overview

Location [1]
19p13.2
Protein [2]
Transcription activator BRG1
Synonyms [1]
SWI2, SNF2LB, hSNF2b, CSS4, SNF2L4, SNF2, MRD16, BAF190A, BAF190, BRG1, RTPS2

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].

SMARCA4 GENIE Cases - Top Diseases

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].

SMARCA4 GENIE Cases - Top Alterations

Significance of SMARCA4 in Diseases

Medulloblastoma +

Malignant Solid Tumor +

Medulloblastoma, Non-WNT/Non-SHH +

Rhabdoid Tumor +

Endometrial Endometrioid Adenocarcinoma +

Bladder Carcinoma +

Large Cell/Anaplastic Medulloblastoma +

Central Nervous System Embryonal Neoplasm +

Anaplastic Astrocytoma +

Non-Hodgkin Lymphoma +

Lymphoma +

Glioblastoma +

Breast Carcinoma +

Synovial Sarcoma +

Atypical Teratoid/Rhabdoid Tumor +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Desmoplastic/Nodular Medulloblastoma +

Epithelioid Sarcoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Anaplastic Oligodendroglioma +

Malignant Ovarian Clear Cell Tumor +

Esophageal Adenocarcinoma +

Melanoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Small Cell Lung Carcinoma +

Anaplastic Pleomorphic Xanthoastrocytoma +

Esophageal Squamous Cell Carcinoma +

Colorectal Carcinoma +

Gastric Adenocarcinoma +

Sarcomatoid Carcinoma +

High-Grade Glioma, NOS +

Ovarian Endometrioid Adenocarcinoma +

Malignant Ovarian Endometrioid Tumor +

Diffuse Glioma +

Malignant Glioma +

Malignant Central Nervous System Neoplasm +

Head And Neck Carcinoma +

Pancreatic Carcinoma +

Ovarian Carcinoma +

Ependymoma +

Sarcoma +

Soft Tissue Sarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Acute Myeloid Leukemia +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Ependymoma +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma, RELA Fusion-Positive +

Extrarenal Rhabdoid Tumor +

Gastric Squamous Cell Carcinoma +

Hepatoblastoma +

Intracranial Primitive Neuroectodermal Neoplasm +

Mixed Phenotype Acute Leukemia +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Small Cell Carcinoma, Hypercalcemic Type +

Pineoblastoma +

Retinoblastoma +

Rhabdoid Tumor Of The Kidney +

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.