Overview

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

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

Biomarker-Directed Therapies

Significance of BRCA2 Loss (germline) in Diseases

Breast Carcinoma +

Fallopian Tube Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Malignant Solid Tumor +

Small Cell Lung Carcinoma +

Gastric Carcinoma +

Hereditary Breast And Ovarian Cancer Syndrome +

Pancreatic Adenocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Breast Lobular Carcinoma In Situ +

Colorectal Carcinoma +

Ductal Carcinoma In Situ +

Endometrial Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Ovarian Clear Cell Tumor +

Ovarian Endometrioid Tumor +

Ovarian Mixed Epithelial Tumor +

Ovarian Serous Tumor +

Peritoneal Carcinoma +

Primary Peritoneal Serous Adenocarcinoma +

Primary Peritoneal Serous Papillary Adenocarcinoma +

Prostate Carcinoma +

Transitional Cell Carcinoma +

Undifferentiated Ovarian Carcinoma +

Urothelial 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. 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.