Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
17q21.31
Pathway
DNA damage/repair
Synonyms [1]
IRIS, PNCA4, BROVCA1, PPP1R53, BRCAI, RNF53, FANCS, BRCC1, PSCP

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.

Biomarker-Directed Therapies

Significance of BRCA1 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 +

High Grade Ovarian Serous Adenocarcinoma +

Pancreatic Carcinoma +

Non-Small Cell Lung Carcinoma +

Endometrial Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Fallopian Tube Endometrioid Adenocarcinoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Primary Peritoneal Serous Adenocarcinoma +

Small Cell Lung Carcinoma +

Urothelial Carcinoma +

Colorectal Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Head And Neck Carcinoma +

Melanoma +

Breast Lobular Carcinoma In Situ +

Cervical Carcinoma +

Lymphoma +

Non-Hodgkin Lymphoma +

Ovarian Endometrioid Adenocarcinoma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Soft Tissue Sarcoma +

Bladder Carcinoma +

Ductal Carcinoma In Situ +

Head And Neck Squamous Cell Carcinoma +

Invasive Breast Carcinoma +

Malignant Ovarian Epithelial Tumor +

Ovarian Undifferentiated Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Bile Duct Carcinoma +

Bladder Urothelial Carcinoma +

Clear Cell Renal Cell Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Ewing Sarcoma +

Fallopian Tube Transitional Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Central Nervous System Neoplasm +

Malignant Ovarian Serous Tumor +

Osteosarcoma +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Endometrioid Tumor +

Ovarian Mixed Epithelial Tumor +

Ovarian Transitional Cell Carcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Ampulla Of Vater Carcinoma +

Anal Carcinoma +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Breast Adenocarcinoma +

Breast Fibrocystic Change, Proliferative Type +

Breast Intraductal Proliferative Lesion +

Bronchogenic Carcinoma +

Cancer +

Carcinoma Of Unknown Primary +

Cholangiocarcinoma +

Colorectal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Adenocarcinoma +

Esophageal Squamous Cell Carcinoma +

Fallopian Tube Clear Cell Adenocarcinoma +

Fallopian Tube Mucinous Adenocarcinoma +

Fallopian Tube Serous Adenocarcinoma +

Fallopian Tube Undifferentiated Carcinoma +

Gallbladder Carcinoma +

Germ Cell Tumor +

Glioblastoma +

Glioma +

Histiocytic Sarcoma +

Intraductal Proliferative Lesion Of The Breast +

Juvenile Xanthogranuloma +

Langerhans Cell Histiocytosis +

Leiomyosarcoma +

Low Grade Fallopian Tube Serous Adenocarcinoma +

Lung Carcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Gastric Neoplasm +

Malignant Intestinal Neoplasm +

Malignant Mesothelioma +

Malignant Mixed Mesodermal (Mullerian) Tumor +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Mixed Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Malignant Uterine Neoplasm +

Mantle Cell Lymphoma +

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

Medulloblastoma +

Multiple Myeloma +

Neuroblastoma +

Neuroendocrine Carcinoma +

Neuroendocrine Tumor +

Ovarian Carcinosarcoma +

Ovarian Clear Cell Tumor +

Ovarian Endometrioid Adenocarcinofibroma +

Ovarian Mucinous Adenocarcinoma +

Ovarian Serous Tumor +

Penile Carcinoma +

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 +

Renal Cell Carcinoma +

Rhabdomyosarcoma +

Sarcoma +

Transitional Cell Carcinoma +

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.