Gene Location [1]

SMARCB1 Mutation is present in 0.68% of AACR GENIE cases, with colon adenocarcinoma, lung adenocarcinoma, bladder urothelial carcinoma, endometrial endometrioid adenocarcinoma, and colorectal adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with SMARCB1 Mutation

Significance of SMARCB1 Mutation in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Rhabdoid Tumor +

Breast Carcinoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Epithelioid Sarcoma +

Colorectal Carcinoma +

Cervical Carcinoma +

Primary Peritoneal Carcinoma +

Synovial Sarcoma +

Rhabdoid Tumor Of The Kidney +

Atypical Teratoid/Rhabdoid Tumor +

Urothelial Carcinoma +

Endometrial Carcinoma +

Bladder Carcinoma +

Malignant Central Nervous System Neoplasm +

Non-Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Squamous Cell Carcinoma +

Soft Tissue Sarcoma +

Fallopian Tube Carcinoma +

Vaginal Carcinoma +

Penile Carcinoma +

Mantle Cell Lymphoma +

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

Endometrial Endometrioid Adenocarcinoma +

Ampulla Of Vater Carcinoma +

Malignant Ovarian Endometrioid Tumor +

Chordoma +

Bladder Urothelial Carcinoma +

Malignant Small Intestinal Neoplasm +

Malignant Intestinal Neoplasm +

Anal Carcinoma +

Lymphoma +

Esophageal Carcinoma +

Sarcomatoid Carcinoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Esophagogastric Neoplasm +

Cholangiocarcinoma +

Diffuse Large B-Cell Lymphoma +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Malignant Ovarian Epithelial Tumor +

Gastrointestinal Stromal Tumor +

Small Cell Lung Carcinoma +

Acute Myeloid Leukemia +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Dedifferentiated Chordoma +

Extrarenal Rhabdoid Tumor +

Hepatoblastoma +

Histiocytic And Dendritic Cell Neoplasm +

Mixed Phenotype Acute Leukemia +

Retinoblastoma +

Vulvar Carcinoma +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.