BRIP1 Antibody

1. 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. PMID: 30136158
2. 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. PMID: 22032289
3. In a Chinese population, genetic variations in the BRIP1 gene are linked to increased risk for meningioma. PMID: 29581016
4. 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. PMID: 28440438
5. 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. PMID: 26790966
6. 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. PMID: 27107905
7. Cells expressing FANCJ pathological mutants exhibited defective sister chromatid recombination with an increased frequency of long-tract gene conversions. PMID: 28911102
8. Ttruncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. PMID: 26921362
9. Germline mutation in BRIP1 gene is associated with melanoma. PMID: 27074266
10. diverse endogenous microsatellite signals were also lost upon replication stress after FANCJ depletion, and in FANCJ null patient cells. PMID: 27179029
11. Findings collectively demonstrate that microRNA-543 exerts its oncogene function by directly targeting BRCA1-interacting protein 1 in cervical cancer. PMID: 28231728
12. 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. PMID: 27399284
13. A variant at a potentially functional microRNA-binding site in BRIP1 was associated with risk of squamous cell carcinoma of the head and neck. PMID: 26711789
14. BRIP1 might be the gene involved in the onset of breast cancer in families that do not show BRACA1/2 mutations (Review) PMID: 26709662
15. Fancj helicase-deficient mice, while phenotypically resembling Fanconi anemia (FA), are also hypersensitive to replication inhibitors and predisposed to lymphoma PMID: 26637282
16. FANCJ and BRCA2 share FANCD2's role in replication fork restart. PMID: 25659033
17. Deleterious germline mutations in BRIP1 are associated with a moderate increase in the risk of EOC Epithelial Ovarian Cancer). PMID: 26315354
18. our data point to the existence of a functional interplay between hMSH5 and FANCJ in double-strand break repair induced by replication stress. PMID: 26055704
19. In coordination with BRCA1, FancJ promotes DNA damage-induced centrosome amplification in DNA damaged cells. PMID: 25483079
20. Genetic variants in BRIP1 (BACH1) contribute to risk of nonsyndromic cleft lip with or without cleft palate. PMID: 25045080
21. Our results suggest not only that FANCD2 regulates FANCJ chromatin localization but also that FANCJ is necessary for efficient loading of FANCD2 onto chromatin following DNA damage caused by mitomycin C treatment. PMID: 25070891
22. The assessment of FANCD2, RAD51, BRCA1 and BRIP1 nuclear proteins could provide important information about the patients at risk for treatment failure. PMID: 24708616
23. The interaction between TopBP1 and BACH1 is required for the extension of single-stranded DNA regions and RPA loading following replication stress, which is a prerequisite for the subsequent activation of replication checkpoint. PMID: 20159562
24. we uncover an MLH1 clinical mutation with a leucine (L)-to-histidine (H) amino acid change at position 607 in hereditary nonpolyposis colon cancer that ablates MLH1 binding to FANCJ PMID: 20978114
25. FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation. PMID: 24351291
26. Fanconi anemia group J (FANCJ) helicase partners with the single-stranded DNA-binding protein replication protein A (RPA) to displace BamHI-E111A bound to duplex DNA in a specific manner. PMID: 24895130
27. FANCJ-MLH1 interaction is important for DNA damage responses. PMID: 24966277
28. SNPs in BRIP1 are significantly associated with breast cancer. PMID: 24301948
29. Loss of BRIP1 thus disrupts normal mammary morphogenesis and causes neoplastic-like changes, possibly via dysregulating multiple cellular signaling pathways functioning in the normal development of mammary glands. PMID: 24040146
30. analysis of two Fanconi anemia patient mutations, R251C and Q255H, that are localized in helicase motif Ia of FANCJ PMID: 24573678
31. The BRIP1 gene was screened for mutations in well-characterized, Finnish, high-risk hereditary breast and/or ovarian cancer individuals. PMID: 21356067
32. The results strongly suggest that the decrease in FANCJ caused by 5-fluorouracil leads to an increase in sensitivity to oxaliplatin, indicating that the FANCJ protein plays an important role in the synergism of the combination of 5FU and oxaliplatin PMID: 22968820
33. BRIP1 is a direct transcription target of FOXM1. Depletion of FOXM1 downregulates BRIP1 expression at the protein & mRNA levels. FOXM1 regulates BRIP1 expression to modulate epirubicin-induced DNA damage repair and drug resistance. PMID: 23108394
34. BRIP1 gene polymorphisms play a role in cervical cancer in Chinese Han population. PMID: 23644138
35. FANCJ helicase and MRE11 nuclease interact to facilitate the DNA damage response. PMID: 23530059
36. variant alleles in two (Pro919Ser and G64A) of the three BRIP1 polymorphisms elicited no associations with breast cancer risk PMID: 23225146
37. SNPs in the BRIP1 gene may influence cervical cancer susceptibility in a Chinese Han population. PMID: 23473757
38. FANCJ expression may be a useful biomarker to predict sensitivity to 5-fluorouracil and prognosis in colorectal cancer. PMID: 22526901
39. FANCJ phosphorylation is strongly induced by DNA-damaging agents. PMID: 23157317
40. We show that acetylation at lysine 1249 is a critical regulator of FANCJ function during cellular DNA repair. PMID: 22792074
41. the Q motif is essential for FANCJ enzymatic activity in vitro and DNA repair function in vivo PMID: 22582397
42. Downregulation of BRIP1, a physiological partner of BRCA1 in the DNA repair pathway, triggers BRCA1 chromatin dissociation. PMID: 22137763
43. six missense variants predicted to be causative were detected, one in BRIP1 and five in PALB2 PMID: 21409391
44. BRIP1 gene variants may not play a relevant role in Male Breast Cancer predisposition PMID: 21165771
45. FANCJ catalytic activity and its effect on BLM protein stability contribute to preservation of genomic stability and a normal response to replication stress. PMID: 21240188
46. Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. PMID: 21127055
47. Genomic rearrangements of the BRIP1 gene is associated with breast cancer. PMID: 20567916
48. FANCJ is recruited in response to replication stress and serves to link FANCD2 to BRCA1. PMID: 20676667
49. recombinant FANCJ-A349P protein had reduced iron and was defective in coupling ATP hydrolysis and translocase activity to unwinding forked duplex or G-quadruplex DNA substrates or disrupting protein-DNA complexes PMID: 20639400
50. FancB (FAAP95, FA core complex)showed differences in methylation in HNSCC. PMID: 20332657

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HGNC: 20473

OMIM: 114480

KEGG: hsa:83990

STRING: 9606.ENSP00000259008

UniGene: Hs.128903