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]
PPP1R53, PNCA4, BRCC1, PSCP, BRCAI, RNF53, IRIS, BROVCA1, FANCS

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 3.04% of all cancers with non-small cell lung carcinoma, breast carcinoma, colorectal adenocarcinoma, ovarian neoplasm, and melanoma having the greatest prevalence of alterations [3].

BRCA1 GENIE Cases - Top Diseases

The most common alterations in BRCA1 are BRCA1 Mutation (3.03%), BRCA1 Mutation (germline) (3.03%), BRCA1 Mutation (somatic) (3.03%), BRCA1 Frameshift (0.40%), and BRCA1 Frameshift (germline) (0.40%) [3].

BRCA1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of BRCA1 in Diseases

Breast Carcinoma +

Fallopian Tube Carcinoma +

Peritoneal Carcinoma +

Malignant Ovarian Neoplasm +

Malignant Solid Tumor +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Small Cell Lung Carcinoma +

Lymphoma +

Endometrial Carcinoma +

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Pancreatic Adenocarcinoma +

Non-Hodgkin Lymphoma +

Hereditary Breast And Ovarian Cancer Syndrome +

High Grade Ovarian Serous Adenocarcinoma +

Pancreatic Carcinoma +

Breast Lobular Carcinoma In Situ +

Urothelial Carcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Multiple Myeloma +

Bladder Carcinoma +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Cervical Carcinoma +

Gastric Adenocarcinoma +

Cholangiocarcinoma +

Ductal Carcinoma In Situ +

Ovarian Mixed Epithelial Tumor +

Penile Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Melanoma +

Squamous Cell Lung Carcinoma +

Ovarian Endometrioid Tumor +

Neuroendocrine Carcinoma +

Diffuse Large B-Cell Lymphoma +

Anal Carcinoma +

Lung Adenocarcinoma +

Ovarian Clear Cell Tumor +

Glioblastoma +

Anaplastic Astrocytoma +

Esophageal Adenocarcinoma +

Leiomyosarcoma +

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

Renal Cell Carcinoma +

Osteosarcoma +

Uveal Melanoma +

Mesothelioma +

Sarcoma +

Ewing Sarcoma +

Bile Duct Carcinoma +

Clear Cell Renal Cell Carcinoma +

Neuroendocrine Tumor +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Breast Fibrocystic Change, Proliferative Type +

Breast Intraductal Proliferative Lesion +

Cancer +

Carcinoma Of Unknown Primary Origin +

Germ Cell Tumor +

High Grade Fallopian Tube Serous Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Intraductal Proliferative Lesion Of The Breast +

Mantle Cell Lymphoma +

Ovarian Serous Tumor +

Peripheral Primitive Neuroectodermal Tumor +

Primary Peritoneal Serous Adenocarcinoma +

Primary Peritoneal Serous Papillary Adenocarcinoma +

Transitional Cell Carcinoma +

Undifferentiated Ovarian Carcinoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.