Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

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 2.57% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, invasive breast carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

BRIP1 GENIE Cases - Top Diseases

The most common alterations in BRIP1 are BRIP1 Mutation (1.57%), BRIP1 Amplification (0.95%), BRIP1 Nonsense (0.14%), BRIP1 Fusion (0.06%), and BRIP1 A745T (0.03%) [3].

BRIP1 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of BRIP1 in Diseases

Prostate Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Small Cell Lung Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Melanoma +

Colorectal Carcinoma +

Cervical Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Gastric Adenocarcinoma +

Pancreatic Carcinoma +

Soft Tissue Sarcoma +

Bladder Urothelial Carcinoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Esophageal Carcinoma +

Esophageal Adenocarcinoma +

Head And Neck Carcinoma +

Non-Hodgkin Lymphoma +

Gastrointestinal Stromal Tumor +

Osteosarcoma +

Clear Cell Renal Cell Carcinoma +

Penile Carcinoma +

Invasive Breast Carcinoma +

Neuroblastoma +

Anal Carcinoma +

Medulloblastoma +

Pancreatic Ductal Adenocarcinoma +

Bladder Carcinoma +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Central Nervous System Neoplasm +

High Grade Fallopian Tube Serous Adenocarcinoma +

Glioma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Esophagogastric Neoplasm +

Malignant Small Intestinal Neoplasm +

Diffuse Large B-Cell Lymphoma +

Malignant Ovarian Epithelial Tumor +

Rhabdomyosarcoma +

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

Multiple Myeloma +

Malignant Gastric Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Leiomyosarcoma +

Ampulla Of Vater Carcinoma +

Renal Cell Carcinoma +

Mantle Cell Lymphoma +

Bile Duct Adenocarcinoma +

Cholangiocarcinoma +

Biliary Tract Carcinoma +

Malignant Mesothelioma +

Ewing Sarcoma +

Ovarian Clear Cell Adenocarcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Vaginal Carcinoma +

Vulvar 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. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. 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.