ArticleClinical cancer research : an official journal of the American Association for Cancer Research2008
A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 110 citations in OpenAlex.
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- Multimolecular characteristics and role of BRCA1 interacting protein C-terminal helicase 1 (BRIP1) in human tumors: a pan-cancer analysis.World journal of surgical oncology · 2023Article
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- Bioinformatics Analysis Reveals the Biomarker Value and Potential Mechanism of miR-675-3p in Gastric Cancer.Computational intelligence and neuroscience · 2022Article
- The repair geneOncology reviews · 2021Article
- Prognostic Value Estimation of BRIP1 in Breast Cancer by Exploiting Transcriptomics Data Through Bioinformatics Approaches.Bioinformatics and biology insights · 2021Article
- Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer.Cancer science · 2020Article
- Helicase-inactivatingCold Spring Harbor molecular case studies · 2020Article
- Novel role of BRCA1 interacting C-terminal helicase 1 (BRIP1) in breast tumour cell invasion.Journal of cellular and molecular medicine · 2020Article
- RareCancer research · 2020Article
- Investigation of the core binding regions of human Werner syndrome and Fanconi anemia group J helicases on replication protein A.Scientific reports · 2019Article
- Recent advances of therapeutic targets based on the molecular signature in breast cancer: genetic mutations and implications for current treatment paradigms.Journal of hematology & oncology · 2019Review
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- BLM's balancing act and the involvement of FANCJ in DNA repair.Cell cycle (Georgetown, Tex.) · 2018Article
- Article
- Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer.Cancer research and treatment · 2016Article
- Large-scale RNA-Seq Transcriptome Analysis of 4043 Cancers and 548 Normal Tissue Controls across 12 TCGA Cancer Types.Scientific reports · 2015Article
- Construction of pancreatic cancer double-factor regulatory network based on chip data on the transcriptional level.Molecular biology reports · 2014Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeBRCA1-interacting protein 1 (BRIP1; FANCJ/BACH1), which encodes a DNA helicase that interacts with BRCA1, has been suggested to be a low-penetrance breast cancer predisposing gene. We aimed to assess whether BRIP1 mutations contribute to breast cancer susceptibility in our population and, if so, to investigate the effect of such mutation(s) on BRIP1 function. EXPERIMENTAL
designA series of 49 breast/ovarian cancer families, devoid of a BRCA1/BRCA2 mutation, were screened for BRIP1 mutations. Functional analyses, including coimmunoprecipitation and stability assays, were employed to further characterize a previously unreported variant.
resultsFive sequence alterations were identified, of which four had been already described. Herein, we report a novel BRIP1 germ-line mutation identified in a woman with early-onset breast cancer. The mutation consists of a 4-nucleotide deletion (c.2992-2995delAAGA) in BRIP1 exon 20 that causes a shift in the reading frame, disrupts the BRCA1-binding domain of BRIP1, and creates a premature stop codon. Functional analysis of the recombinant mutant protein in transfected cells showed that the truncation interferes with the stability of the protein and with its ability to interact with BRCA1. Loss of the wild-type BRIP1 allele with retention of the mutated one was observed in the patient's breast tumor tissue.
conclusionsThese results, by showing that the newly identified BRIP1 c.2992-2995delAAGA mutation is associated with instability and functional impairment of the encoded protein, provide further evidence of a breast cancer-related role for BRIP1.
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