Gene Location [1]
Variant Type

SMARCA4 Loss is present in 0.10% of AACR GENIE cases, with lung adenocarcinoma, breast invasive ductal carcinoma, cancer of unknown primary, high grade ovarian serous adenocarcinoma, and adenocarcinoma of unknown primary having the greatest prevalence [4].

Top Disease Cases with SMARCA4 Loss

Significance of SMARCA4 Loss in Diseases

Malignant Solid Tumor +

Lymphoma +

Rhabdoid Tumor +

Non-Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Ovarian Carcinoma +

Breast Carcinoma +

Acute Myeloid Leukemia +

Pancreatic Carcinoma +

Bladder Carcinoma +

Sarcoma +

Colorectal Carcinoma +

Acute Biphenotypic Leukemia +

Acute Leukemia Of Ambiguous Lineage +

Acute Lymphoblastic Leukemia +

Anaplastic Astrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Epithelioid Sarcoma +

Extrarenal Rhabdoid Tumor +

Glioblastoma +

Head And Neck Carcinoma +

Hepatoblastoma +

Malignant Central Nervous System Neoplasm +

Melanoma +

Mixed Phenotype Acute Leukemia +

Retinoblastoma +

Rhabdoid Tumor Of The Kidney +

Synovial Sarcoma +


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.