Gene Location [1]
DNA damage/repair

BRCA1 Mutation is present in 2.78% of AACR GENIE cases, with non-small cell lung carcinoma, breast carcinoma, colorectal adenocarcinoma, ovarian neoplasm, and melanoma having the greatest prevalence [4].

Top Disease Cases with BRCA1 Mutation

Biomarker-Directed Therapies

Significance of BRCA1 Mutation in Diseases

Fallopian Tube Carcinoma +

Peritoneal Carcinoma +

Malignant Ovarian Neoplasm +

Malignant Solid Tumor +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Primary Peritoneal Carcinoma +

Prostate Carcinoma +

Lymphoma +

Non-Hodgkin Lymphoma +

High Grade Ovarian Serous Adenocarcinoma +

Endometrial Carcinoma +

Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Pancreatic Carcinoma +

Urothelial Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Breast Lobular Carcinoma In Situ +

Hereditary Breast And Ovarian Cancer Syndrome +

Bladder Carcinoma +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Cervical Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Cholangiocarcinoma +

Multiple Myeloma +

Penile Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Melanoma +

Squamous Cell Lung Carcinoma +

Neuroendocrine Carcinoma +

Diffuse Large B-Cell Lymphoma +

Anal Carcinoma +

Lung Adenocarcinoma +

Glioblastoma +

Anaplastic Astrocytoma +

Esophageal Adenocarcinoma +

Leiomyosarcoma +

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

Renal Cell Carcinoma +

Osteosarcoma +

Uveal Melanoma +

Mesothelioma +

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 +

Ductal Carcinoma In Situ +

Ewing Sarcoma +

Germ Cell Tumor +

Histiocytic And Dendritic Cell Neoplasm +

Intraductal Proliferative Lesion Of The Breast +

Mantle Cell Lymphoma +

Peripheral Primitive Neuroectodermal Tumor +

Vaginal Carcinoma +

Vulvar Carcinoma +


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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. 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.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.