Gene Location [1]
Variant Type

SMARCB1 Loss is present in 0.21% of AACR GENIE cases, with high grade ovarian serous adenocarcinoma, epithelioid sarcoma, atypical teratoid/rhabdoid tumor, prostate adenocarcinoma, and conventional glioblastoma multiforme having the greatest prevalence [4].

Top Disease Cases with SMARCB1 Loss

Significance of SMARCB1 Loss in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Rhabdoid Tumor +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Non-Hodgkin Lymphoma +

Epithelioid Sarcoma +

Synovial Sarcoma +

Cervical Carcinoma +

Colorectal Carcinoma +

Primary Peritoneal Carcinoma +

Atypical Teratoid/Rhabdoid Tumor +

Rhabdoid Tumor Of The Kidney +

Kidney Medullary Carcinoma +

Soft Tissue Sarcoma +

Malignant Central Nervous System Neoplasm +

Adenocarcinoma Of The Gastroesophageal Junction +

Endometrial Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Bladder Carcinoma +

Fallopian Tube Carcinoma +

Chordoma +

Retinoblastoma +

High Grade Ovarian Serous Adenocarcinoma +

Malignant Ovarian Epithelial Tumor +

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

Gastrointestinal Stromal Tumor +

Esophageal Carcinoma +

Small Cell Lung Carcinoma +

Lymphoma +

Malignant Esophagogastric Neoplasm +

Endometrial Endometrioid Adenocarcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Malignant Intestinal Neoplasm +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Acute Myeloid Leukemia +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Bladder Urothelial Carcinoma +

Cholangiocarcinoma +

Dedifferentiated Chordoma +

Diffuse Large B-Cell Lymphoma +

Extrarenal Rhabdoid Tumor +

Gastric Carcinoma +

Hepatoblastoma +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Gastric Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Endometrioid Tumor +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Mixed Phenotype Acute Leukemia +

Penile Carcinoma +

Renal Cell Carcinoma +

Sarcomatoid Carcinoma +

Unclassified Renal Cell Carcinoma +

Vaginal Carcinoma +

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.