Overview

Location [1]
22q11.23|22q11
Protein [2]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Synonyms [1]
Snr1, hSNFS, MRD15, CSS3, SNF5, SWNTS1, PPP1R144, INI1, BAF47, RDT, Sfh1p, SNF5L1, RTPS1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1) is a gene that encodes a protein that functions in the removal of suppressive chromatin structures so that transcription may occur. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame insertions and deletions are observed in cancers such as bone cancer, central nervous system cancer, and intestinal cancer.

SMARCB1 is altered in 1.02% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, bladder urothelial carcinoma, and melanoma having the greatest prevalence of alterations [3].

SMARCB1 GENIE Cases - Top Diseases

The most common alterations in SMARCB1 are SMARCB1 Mutation (1.12%), SMARCB1 Loss (0.20%), SMARCB1 Amplification (0.18%), SMARCB1 R377H (0.10%), and SMARCB1 Y35Y (0.10%) [3].

SMARCB1 GENIE Cases - Top Alterations

Significance of SMARCB1 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Rhabdoid Tumor +

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Epithelioid Sarcoma +

Urothelial Carcinoma +

Cervical Carcinoma +

Fallopian Tube Carcinoma +

Colorectal Carcinoma +

Soft Tissue Sarcoma +

Endometrial Carcinoma +

Malignant Central Nervous System Neoplasm +

Non-Small Cell Lung Carcinoma +

Cholangiocarcinoma +

Atypical Teratoid/Rhabdoid Tumor +

Head And Neck Squamous Cell Carcinoma +

Hepatoblastoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Kidney Medullary Carcinoma +

Rhabdoid Tumor Of The Kidney +

Synovial Sarcoma +

Acute Myeloid Leukemia +

Bladder Carcinoma +

Bladder Urothelial Carcinoma +

Malignant Intestinal Neoplasm +

Kidney Carcinoma +

Renal Cell Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Esophageal Carcinoma +

Lymphoma +

Malignant Esophagogastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Adenocarcinoma Of The Gastroesophageal Junction +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Chordoma +

Clear Cell Renal Cell Carcinoma +

Dedifferentiated Chordoma +

Diffuse Large B-Cell Lymphoma +

Extrarenal Rhabdoid Tumor +

Gastric Carcinoma +

Gastrointestinal Stromal Tumor +

Malignant Gastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Mesothelioma +

Mixed Phenotype Acute Leukemia +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Penile Carcinoma +

Retinoblastoma +

Small Cell Lung Carcinoma +

Small Cell Undifferentiated Hepatoblastoma +

Unclassified Renal Cell Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

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 6. 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.