Associated Genetic Biomarkers
Associated Diseases


Gene Location [1]

ARID1A Mutation is present in 5.58% of AACR GENIE cases, with lung adenocarcinoma, endometrial endometrioid adenocarcinoma, bladder urothelial carcinoma, colon adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence [4].

Top Disease Cases with ARID1A Mutation

Significance of ARID1A Mutation in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Endometrial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Cervical Carcinoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Small Cell Lung Carcinoma +

Fallopian Tube Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

Endometrial Endometrioid Adenocarcinoma +

Bladder Urothelial Carcinoma +

Urothelial Carcinoma +

Melanoma +

Diffuse Large B-Cell Lymphoma +

Malignant Ovarian Epithelial Tumor +

Non-Small Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Soft Tissue Sarcoma +

Gastrointestinal Stromal Tumor +

Malignant Ovarian Clear Cell Tumor +

Ovarian Endometrioid Adenocarcinoma +

Urethral Urothelial Carcinoma +

Bladder Carcinoma +

Malignant Ovarian Endometrioid Tumor +

Malignant Female Reproductive System Neoplasm +

Malignant Small Intestinal Neoplasm +

Follicular Lymphoma +

Biliary Tract Carcinoma +

Gastric Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Gastric Carcinoma +

Malignant Gastric Neoplasm +

Esophageal Adenocarcinoma +

Cholangiocarcinoma +

Epithelioid Sarcoma +

Esophageal Carcinoma +

Malignant Intestinal Neoplasm +

Ampulla Of Vater Carcinoma +

Cancer +

Sarcomatoid Carcinoma +

Lymphoma +

Pancreatic Adenocarcinoma +

Anal Carcinoma +

Pancreatic Carcinoma +

Rhabdoid Tumor +

High Grade Ovarian Serous Adenocarcinoma +

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

Leiomyosarcoma +

Uveal Melanoma +

Mantle Cell Lymphoma +

Malignant Soft Tissue Neoplasm +

Pleural Mesothelioma +

Peritoneal Mesothelioma +

Synovial Sarcoma +

Osteosarcoma +

Ovarian Small Cell Carcinoma, Hypercalcemic Type +

Penile Carcinoma +

Renal Pelvis Urothelial Carcinoma +

Ureter Urothelial Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.