Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
17q21.31
Pathway
DNA damage/repair
Protein [2]
Breast cancer type 1 susceptibility protein
Synonyms [1]
FANCS, RNF53, BROVCA1, BRCC1, IRIS, PSCP, PPP1R53, BRCAI, PNCA4

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 2.59% 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 (3.03%), BRCA1 Frameshift (0.40%), BRCA1 Nonsense (0.34%), BRCA1 Amplification (0.13%), and BRCA1 Deletion (0.06%) [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 Ovarian Neoplasm +

Malignant Peritoneal Neoplasm +

Malignant Solid Tumor +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Endometrial Carcinoma +

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 +

Cervical Carcinoma +

Small Cell Lung Carcinoma +

Non-Hodgkin Lymphoma +

Lymphoma +

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 +

Malignant Ovarian Serous Tumor +

Bladder Urothelial Carcinoma +

Ovarian Endometrioid Adenocarcinoma +

Ovarian Endometrioid Tumor +

Squamous Cell Lung Carcinoma +

Gastric Carcinoma +

Invasive Breast Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Soft Tissue Sarcoma +

Ewing Sarcoma +

Gastrointestinal Stromal Tumor +

Osteosarcoma +

Primary Peritoneal Endometrioid Adenocarcinoma +

Undifferentiated Ovarian Carcinoma +

Ovarian Serous Tumor +

Transitional Cell Carcinoma +

Anal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Endometrial Adenocarcinoma +

Neuroendocrine Carcinoma +

Malignant Uterine Neoplasm +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Lung Carcinoma +

Neuroendocrine Tumor +

Cancer +

Glioblastoma +

Anaplastic Astrocytoma +

Malignant Gastric Neoplasm +

Breast Adenocarcinoma +

B-Cell Non-Hodgkin Lymphoma +

Neuroblastoma +

Leiomyosarcoma +

Renal Cell Carcinoma +

Kidney Carcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Mesothelioma +

Mesothelioma +

Sarcoma +

Bile Duct Adenocarcinoma +

Biliary Tract Carcinoma +

Ampulla Of Vater Carcinoma +

Breast Fibrocystic Change, Proliferative Type +

Breast Intraductal Proliferative Lesion +

Bronchogenic Carcinoma +

Carcinoma Of Unknown Primary Origin +

Esophageal Squamous Cell Carcinoma +

Fallopian Tube Serous Adenocarcinoma +

Fallopian Tube Transitional Cell Carcinoma +

Gallbladder Carcinoma +

Germ Cell Tumor +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Intraductal Proliferative Lesion Of The Breast +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Mixed Mesodermal (Mullerian) Tumor +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Mixed Epithelial Tumor +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

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

Multiple Myeloma +

Ovarian Carcinosarcoma +

Ovarian Clear Cell Adenocarcinoma +

Ovarian Clear Cell Tumor +

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 +

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 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.