Overview

Gene Location [1]
17q21.31
Pathway
DNA damage/repair
Variant Type
Large Deletion
Gene
BRCA1

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

Significance of BRCA1 Large Deletion (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.