Overview

Gene Location [1]
13q13.1
Pathway
DNA damage/repair
Variant Type
Deletion - In frame
Gene
BRCA2

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

Significance of BRCA2 Deletion (germline) in Diseases

Breast Carcinoma +

Malignant Solid Tumor +

Breast Lobular Carcinoma In Situ +

Ductal Carcinoma In Situ +

Hereditary Breast And Ovarian Cancer Syndrome +

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. 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.