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To avoid ambiguous results, studies aimed at assessing the impact of candidate predisposition gene mutations on breast cancer (BC) risk might differentiate between BC index patients with an ovarian cancer (OC) family history and those without. In familial cases, we suggest that BRIP1 is a high-risk gene for late-onset OC but not a BC predisposition gene, though minor effects cannot be excluded.
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Whole exome sequencing in triple negative breast cancer cases revealed BRIP1 rs552752779 (MAF: 75% vs. 6.25%, OR 45.00, 95% CI 9.43-243.32) are risk factors for triple negative breast cancer.
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Since BRCA1 and BACH1 mutations targeting the BRCA1-BACH1 interaction have been associated with breast cancer susceptibility, the results of the present study thus provide evidence for a novel role of BACH1 in tumour suppression.
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In a Chinese population, genetic variations in the BRIP1 gene are linked to increased risk for meningioma.
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LOH may predominantly indicate copy number gains in FANCF and losses in FANCG and BRIP1. Integration of copy number data and gene expression proved difficult as the available sample sets did not overlap.
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Because protein-truncating mutation in BRIP1 was not identified in the current study, it is unlikely that alterations in BRIP1 significantly contribute to the susceptibility of breast cancer in Korean patients.
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As an increasing number of clinically relevant FANCJ mutations are identified, understanding the mechanism whereby FANCJ mutation leads to diseases is critical. Mutational analysis of FANCJ will help us elucidate the pathogenesis and potentially lead to therapeutic strategies by targeting FANCJ.
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We showed that the mutation frequency of RAD51C in Japanese familial breast cancer cases was similar to that in Western countries and that the prevalence of deleterious mutation of PALB2 was possibly lower. Furthermore, our results suggested that BRIP1 mutation frequency in Japan might differ from that in Western countries
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Cells expressing FANCJ pathological mutants exhibited defective sister chromatid recombination with an increased frequency of long-tract gene conversions.
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Ttruncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk.
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Germline mutation in BRIP1 gene is associated with melanoma.
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diverse endogenous microsatellite signals were also lost upon replication stress after FANCJ depletion, and in FANCJ null patient cells.
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Findings collectively demonstrate that microRNA-543 exerts its oncogene function by directly targeting BRCA1-interacting protein 1 in cervical cancer.
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we showed the essential role of HP1 in regulating HR through BRCA1/BARD1-mediated accumulation of FANCJ and CtIP at DSB sites. This mechanism may affect tumorigenesis and chemosensitivity and is thus of high clinical significance.
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A variant at a potentially functional microRNA-binding site in BRIP1 was associated with risk of squamous cell carcinoma of the head and neck.
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BRIP1 might be the gene involved in the onset of breast cancer in families that do not show BRACA1/2 mutations (Review)
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FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation.
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Fancj helicase-deficient mice, while phenotypically resembling Fanconi anemia (FA), are also hypersensitive to replication inhibitors and predisposed to lymphoma
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FANCJ and BRCA2 share FANCD2's role in replication fork restart.
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Deleterious germline mutations in BRIP1 are associated with a moderate increase in the risk of EOC Epithelial Ovarian Cancer).
