Associated Genetic Biomarkers

Overview

Gene Location [1]
13q13.1
Pathway
DNA damage/repair
Gene
BRCA2

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

Significance of BRCA2 Mutation (somatic) in Diseases

Ovarian Carcinoma +

Breast Carcinoma +

Malignant Solid Tumor +

Fallopian Tube Carcinoma +

Primary Peritoneal Carcinoma +

Melanoma +

Bladder Carcinoma +

Colorectal Carcinoma +

Malignant Uterine Neoplasm +

Esophageal Squamous Cell Carcinoma +

Gastric Adenocarcinoma +

Gallbladder Carcinoma +

Lung Carcinoma +

Non-Small Cell Lung Carcinoma +

Esophageal Carcinoma +

Pancreatic Carcinoma +

Prostate Carcinoma +

Invasive Breast Carcinoma +

Bile Duct Carcinoma +

Cervical Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bronchogenic Carcinoma +

Head And Neck 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. 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 6. 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.