Overview

Location [1]
17q23.2
Pathway
DNA damage/repair
Protein [2]
Fanconi anemia group J protein
Synonyms [1]
FANCJ, BACH1, OF

BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is a gene that encodes a protein that functions in normal double-strand break repair of BRCA1. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as endometrial cancer, intestinal cancer, and stomach cancer.

BRIP1 is altered in 2.79% of all cancers with breast carcinoma, non-small cell lung carcinoma, colorectal adenocarcinoma, melanoma, and malignant glioma having the greatest prevalence of alterations [3].

BRIP1 GENIE Cases - Top Diseases

The most common alterations in BRIP1 are BRIP1 Mutation (1.78%), BRIP1 Mutation (germline) (1.78%), BRIP1 Amplification (1.12%), BRIP1 Frameshift (0.10%), and BRIP1 Frameshift (germline) (0.10%) [3].

BRIP1 GENIE Cases - Top Alterations

Significance of BRIP1 in Diseases

Malignant Solid Tumor +

Prostate Adenocarcinoma +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Carcinoma +

Fallopian Tube Carcinoma +

Urothelial Carcinoma +

Small Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Pancreatic Adenocarcinoma +

Primary Peritoneal Carcinoma +

Cervical Carcinoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Penile Carcinoma +

Endometrial Carcinoma +

Anal Carcinoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Bladder Carcinoma +

Lung Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Squamous Cell Lung Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Esophageal Adenocarcinoma +

Diffuse Large B-Cell Lymphoma +

Pancreatic Carcinoma +

Renal Cell Carcinoma +

Gastric Adenocarcinoma +

Clear Cell Renal Cell Carcinoma +

Leiomyosarcoma +

Soft Tissue Sarcoma +

B-Cell Non-Hodgkin Lymphoma +

Histiocytic And Dendritic Cell Neoplasm +

Mantle Cell Lymphoma +

Mesothelioma +

Multiple Myeloma +

Osteosarcoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Carcinoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar 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. 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.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.