Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


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

Breast cancer 1, early onset (BRCA1) is a gene that encodes a protein that functions in maintaining genomic stability and as a tumor suppressor. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

BRCA1 is altered in 2.97% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, high grade ovarian serous adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

BRCA1 GENIE Cases - Top Diseases

The most common alterations in BRCA1 are BRCA1 Mutation (2.34%), BRCA1 Nonsense (0.32%), BRCA1 Fusion (0.12%), BRCA1 Amplification (0.11%), and BRCA1 Loss (0.05%) [3].

BRCA1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of BRCA1 in Diseases

Breast Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Prostate Carcinoma +

Pancreatic Adenocarcinoma +

Malignant Peritoneal Neoplasm +

Malignant Ovarian Neoplasm +

Malignant Solid Tumor +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Endometrial Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Endometrioid Adenocarcinoma +

Urothelial Carcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Small Cell Lung Carcinoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Melanoma +

Colorectal Carcinoma +

Head And Neck Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Cervical Carcinoma +

Non-Hodgkin Lymphoma +

Lymphoma +

Soft Tissue Sarcoma +

Breast Lobular Carcinoma In Situ +

Primary Peritoneal Endometrioid Adenocarcinoma +

Bladder Carcinoma +

Malignant Ovarian Epithelial Tumor +

Head And Neck Squamous Cell Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Invasive Breast Carcinoma +

Ductal Carcinoma In Situ +

Ovarian Undifferentiated Carcinoma +

Ovarian Mixed Epithelial Tumor +

Bladder Urothelial Carcinoma +

Ovarian Endometrioid Tumor +

Squamous Cell Lung Carcinoma +

Malignant Ovarian Serous Tumor +

Esophageal Adenocarcinoma +

Malignant Central Nervous System Neoplasm +

Esophageal Carcinoma +

Bile Duct Carcinoma +

Osteosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Ewing Sarcoma +

Clear Cell Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Fallopian Tube Transitional Cell Carcinoma +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Transitional Cell Carcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Malignant Ovarian Mixed Epithelial Tumor +

Anal Carcinoma +

Transitional Cell Carcinoma +

Ovarian Carcinosarcoma +

Endometrial Adenocarcinoma +

Ovarian Serous Tumor +

Penile Carcinoma +

Carcinoma Of Unknown Primary +

Malignant Uterine Neoplasm +

Neuroendocrine Carcinoma +

Malignant Ovarian Clear Cell Tumor +

Ovarian Clear Cell Tumor +

Ampulla Of Vater Carcinoma +

Lung Carcinoma +

Ovarian Mucinous Adenocarcinoma +

Malignant Intestinal Neoplasm +

Colorectal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Glioblastoma +

Anaplastic Astrocytoma +

Glioma +

Cancer +

Multiple Myeloma +

Malignant Small Intestinal Neoplasm +

Fallopian Tube Serous Adenocarcinoma +

Leiomyosarcoma +

Malignant Mixed Mesodermal (Mullerian) Tumor +

Breast Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Neuroblastoma +

Rhabdomyosarcoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Malignant Gastric Neoplasm +

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

Renal Cell Carcinoma +

Malignant Mesothelioma +

Biliary Tract Carcinoma +

Medulloblastoma +

Neuroendocrine Tumor +

Sarcoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Germ Cell Tumor +

Mantle Cell Lymphoma +

Breast Fibrocystic Change, Proliferative Type +

Breast Intraductal Proliferative Lesion +

Bronchogenic Carcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Fallopian Tube Mucinous Adenocarcinoma +

Fallopian Tube Undifferentiated Carcinoma +

Histiocytic Sarcoma +

Intraductal Proliferative Lesion Of The Breast +

Juvenile Xanthogranuloma +

Langerhans Cell Histiocytosis +

Low Grade Fallopian Tube Serous Adenocarcinoma +

Ovarian Endometrioid Adenocarcinofibroma +

Peripheral Primitive Neuroectodermal Tumor +

Primary Peritoneal Clear Cell Carcinoma +

Primary Peritoneal Low Grade Serous Adenocarcinoma +

Primary Peritoneal Serous Papillary Adenocarcinoma +

Primary Peritoneal Transitional Cell Carcinoma +

Primary Peritoneal Undifferentiated 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. 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.