Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Gene Location [1]
DNA damage/repair

BRCA2 Mutation is present in 3.77% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, bladder urothelial carcinoma, and cutaneous melanoma having the greatest prevalence [4].

Top Disease Cases with BRCA2 Mutation

Biomarker-Directed Therapies

Significance of BRCA2 Mutation in Diseases

Primary Peritoneal Carcinoma +

Prostate Carcinoma +

Fallopian Tube Carcinoma +

Malignant Peritoneal Neoplasm +

Malignant Ovarian Neoplasm +

Malignant Solid Tumor +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Endometrial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Adenocarcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Melanoma +

Colorectal Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Head And Neck Carcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Cervical Carcinoma +

Non-Hodgkin Lymphoma +

Lymphoma +

Soft Tissue Sarcoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Bladder Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Breast Lobular Carcinoma In Situ +

Primary Peritoneal Endometrioid Adenocarcinoma +

Bladder Urothelial Carcinoma +

Squamous Cell Lung Carcinoma +

Ductal Carcinoma In Situ +

Malignant Central Nervous System Neoplasm +

Malignant Ovarian Epithelial Tumor +

Esophageal Carcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Bile Duct Carcinoma +

Ewing Sarcoma +

Gastrointestinal Stromal Tumor +

Osteosarcoma +

Penile Carcinoma +

Endometrial Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Malignant Small Intestinal Neoplasm +

Carcinoma Of Unknown Primary +

Malignant Uterine Neoplasm +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Gastric Neoplasm +

Ovarian Carcinosarcoma +

Glioblastoma +

Malignant Esophagogastric Neoplasm +

Lung Carcinoma +

Anaplastic Astrocytoma +

Glioma +

Malignant Ovarian Serous Tumor +

Medulloblastoma +

Gallbladder Carcinoma +

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

Malignant Mixed Mesodermal (Mullerian) Tumor +

Malignant Mesothelioma +

Neuroblastoma +

Anal Carcinoma +

Invasive Breast Carcinoma +

Biliary Tract Carcinoma +

Renal Cell Carcinoma +

Neuroendocrine Tumor +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Diffuse Large B-Cell Lymphoma +

Rhabdomyosarcoma +

Leiomyosarcoma +

Sarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Multiple Myeloma +

Ampulla Of Vater Carcinoma +

Germ Cell Tumor +

Mantle Cell Lymphoma +

Langerhans Cell Histiocytosis +

Breast Fibrocystic Change, Proliferative Type +

Breast Intraductal Proliferative Lesion +

Bronchogenic Carcinoma +

Histiocytic Sarcoma +

Intraductal Proliferative Lesion Of The Breast +

Juvenile Xanthogranuloma +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Endometrioid Adenocarcinofibroma +

Peripheral Primitive Neuroectodermal Tumor +

Primary Peritoneal High Grade Serous Adenocarcinoma +

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.