Overview

Gene Location [1]
17q21.31
Pathway
DNA damage/repair
Gene
BRCA1

AACR GENIE data is not categorized as somatic or germline. To see GENIE data for this alteration, click here.

Significance of BRCA1 Mutation (somatic) in Diseases

Breast Carcinoma +

Ovarian Carcinoma +

Fallopian Tube Carcinoma +

Malignant Solid Tumor +

Primary Peritoneal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bile Duct Carcinoma +

Bladder Carcinoma +

Bronchogenic Carcinoma +

Cancer +

Cervical Carcinoma +

Colorectal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Invasive Breast Carcinoma +

Lung Carcinoma +

Malignant Uterine Neoplasm +

Melanoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Prostate Carcinoma +

Soft Tissue Sarcoma +

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. 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 8. 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.