Associated Genetic Biomarkers
Associated Diseases

Overview

Location [1]
2q35
Protein [2]
BRCA1-associated RING domain protein 1
Synonyms [1]
-

BRCA associated RING domain 1 (BARD1) is a gene that encodes a protein that binds to BRCA1 at its N-terminal and functions in regulating cell growth and tumor suppression. Missense mutations, nonsense mutations, silent mutations, frameshift insertions and deletions, and in-frame deletions are observed in cancers such as esophageal cancer, intestinal cancer, and ovarian cancer.

BARD1 is altered in 1.39% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

BARD1 GENIE Cases - Top Diseases

The most common alterations in BARD1 are BARD1 Mutation (1.28%), BARD1 Nonsense (0.09%), BARD1 L359_P365del (1.74%), BARD1 Loss (0.05%), and BARD1 Fusion (0.15%) [3].

BARD1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of BARD1 in Diseases

Prostate Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Adenocarcinoma +

Small Cell Lung Carcinoma +

Non-Small Cell Lung Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Colorectal Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Gastric Adenocarcinoma +

Pancreatic Carcinoma +

Cervical Carcinoma +

Soft Tissue Sarcoma +

Melanoma +

Bladder Urothelial Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Head And Neck Carcinoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Osteosarcoma +

Gastrointestinal Stromal Tumor +

Clear Cell Renal Cell Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Bladder Carcinoma +

Malignant Small Intestinal Neoplasm +

Glioma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Central Nervous System Neoplasm +

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

Malignant Mesothelioma +

Malignant Esophagogastric Neoplasm +

Diffuse Large B-Cell Lymphoma +

Malignant Ovarian Epithelial Tumor +

Multiple Myeloma +

Biliary Tract Carcinoma +

Malignant Gastric Neoplasm +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Invasive Breast Carcinoma +

Medulloblastoma +

Anal Carcinoma +

Ampulla Of Vater Carcinoma +

Low Grade Ovarian Serous Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Leiomyosarcoma +

Neuroblastoma +

Renal Cell Carcinoma +

Ewing Sarcoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Mantle Cell Lymphoma +

Ovarian Clear Cell Adenocarcinoma +

Penile Carcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Rhabdomyosarcoma +

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 8. 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.