Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
DNA damage/repair
Protein [2]
Breast cancer type 2 susceptibility protein
Synonyms [1]

Breast cancer 2, early onset (BRCA2) is a gene that encodes a protein that functions in maintaining genomic stability and as a tumor suppressor. Missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

BRCA2 is altered in 4.63% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, prostate adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

BRCA2 GENIE Cases - Top Diseases

The most common alterations in BRCA2 are BRCA2 Mutation (5.23%), BRCA2 Frameshift (0.94%), BRCA2 Nonsense (0.53%), BRCA2 Amplification (0.28%), and BRCA2 Loss (0.28%) [3].

BRCA2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of BRCA2 in Diseases

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Prostate Carcinoma +

Pancreatic Adenocarcinoma +

Malignant Ovarian Neoplasm +

Malignant Peritoneal Neoplasm +

Malignant Solid Tumor +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Endometrial Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Hereditary Breast And Ovarian Cancer Syndrome +

High Grade Fallopian Tube Serous Adenocarcinoma +

Gastric Adenocarcinoma +

Fallopian Tube Endometrioid Adenocarcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Melanoma +

Colorectal Carcinoma +

Small Cell Lung Carcinoma +

Lymphoma +

Non-Hodgkin Lymphoma +

Cervical Carcinoma +

Breast Lobular Carcinoma In Situ +

Head And Neck Carcinoma +

Bladder Carcinoma +

Malignant Ovarian Epithelial Tumor +

Clear Cell Renal Cell Carcinoma +

Ductal Carcinoma In Situ +

Head And Neck Squamous Cell Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Bladder Urothelial Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Malignant Ovarian Serous Tumor +

Ovarian Endometrioid Tumor +

Gastric Carcinoma +

Esophageal Carcinoma +

Esophageal Adenocarcinoma +

Invasive Breast Carcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Soft Tissue Sarcoma +

Ewing Sarcoma +

Gastrointestinal Stromal Tumor +

Osteosarcoma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Undifferentiated Ovarian Carcinoma +

Malignant Small Intestinal Neoplasm +

Endometrial Adenocarcinoma +

Transitional Cell Carcinoma +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Malignant Uterine Neoplasm +

Malignant Ovarian Clear Cell Tumor +

Ovarian Clear Cell Tumor +

Esophageal Squamous Cell Carcinoma +

Ovarian Serous Tumor +

Malignant Gastric Neoplasm +

Gallbladder Carcinoma +

Neuroendocrine Carcinoma +

Malignant Esophagogastric Neoplasm +

Cancer +

Lung Carcinoma +

Neuroendocrine Tumor +

Glioblastoma +

Hepatocellular Carcinoma +

Anaplastic Astrocytoma +

Biliary Tract Carcinoma +

Breast Adenocarcinoma +

Renal Cell Carcinoma +

Leiomyosarcoma +

Kidney Carcinoma +

Malignant Mesothelioma +

Mesothelioma +

Bile Duct Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Sarcoma +

Neuroblastoma +

Germ Cell Tumor +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Breast Fibrocystic Change, Proliferative Type +

Breast Intraductal Proliferative Lesion +

Bronchogenic Carcinoma +

Carcinoma Of Unknown Primary Origin +

Diffuse Large B-Cell Lymphoma +

Fallopian Tube Serous Adenocarcinoma +

Fallopian Tube Transitional Cell Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Intraductal Proliferative Lesion Of The Breast +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Mixed Mesodermal (Mullerian) Tumor +

Malignant Ovarian Mixed Epithelial Tumor +

Mantle Cell Lymphoma +

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

Multiple Myeloma +

Ovarian Carcinosarcoma +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Endometrioid Adenocarcinofibroma +

Ovarian Mixed Epithelial Tumor +

Ovarian Transitional Cell Carcinoma +

Penile Carcinoma +

Peripheral Primitive Neuroectodermal Tumor +

Primary Peritoneal Serous Papillary Adenocarcinoma +

Rhabdomyosarcoma +

Uveal Melanoma +

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. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. 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.