BRIP1

Summary

Gene Symbol: BRIP1
Description: BRCA1 interacting protein C-terminal helicase 1
Alias: BACH1, FANCJ, Fanconi anemia group J protein, ATP-dependent RNA helicase BRIP1, BRCA1-associated C-terminal helicase 1, BRCA1-binding helicase-like protein BACH1, BRCA1/BRCA2-associated helicase 1
Species: human
Products:     BRIP1

Top Publications

  1. Dohrn L, Salles D, Siehler S, Kaufmann J, Wiesmuller L. BRCA1-mediated repression of mutagenic end-joining of DNA double-strand breaks requires complex formation with BACH1. Biochem J. 2012;441:919-26 pubmed publisher
    ..of the BRIP1 {BRCA1 [breast cancer 1, early onset]-interacting protein C-terminal helicase 1; also known as FANCJ [FA-J (Fanconi anaemia group J) protein]} gene mutated in Fanconi anaemia patients from complementation group J, ..
  2. Vahteristo P, Yliannala K, Tamminen A, Eerola H, Blomqvist C, Nevanlinna H. BACH1 Ser919Pro variant and breast cancer risk. BMC Cancer. 2006;6:19 pubmed
    b>BACH1 (BRCA1-associated C-terminal helicase 1; also known as BRCA1-interacting protein 1, BRIP1) is a helicase protein that interacts in vivo with BRCA1, the protein product of one of the major genes for hereditary predisposition to ..
  3. Cantor S, Drapkin R, Zhang F, Lin Y, Han J, Pamidi S, et al. The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations. Proc Natl Acad Sci U S A. 2004;101:2357-62 pubmed
    b>BACH1 is a nuclear protein that directly interacts with the highly conserved, C-terminal BRCT repeats of the tumor suppressor, BRCA1...
  4. Levitus M, Waisfisz Q, Godthelp B, de Vries Y, Hussain S, Wiegant W, et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat Genet. 2005;37:934-5 pubmed
    The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance...
  5. Frank B, Hemminki K, Meindl A, Wappenschmidt B, Sutter C, Kiechle M, et al. BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study. BMC Cancer. 2007;7:83 pubmed
    Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC)...
  6. Sy S, Huen M, Chen J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci U S A. 2009;106:7155-60 pubmed publisher
  7. Wang B, Matsuoka S, Ballif B, Zhang D, Smogorzewska A, Gygi S, et al. Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response. Science. 2007;316:1194-8 pubmed
    ..Abraxas binds BRCA1 to the mutual exclusion of BACH1 (BRCA1-associated C-terminal helicase) and CtIP (CtBP-interacting protein), forming a third type of BRCA1 complex...
  8. Suhasini A, Rawtani N, Wu Y, Sommers J, Sharma S, Mosedale G, et al. Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome. EMBO J. 2011;30:692-705 pubmed publisher
    ..BS and FA group J arise from mutations in the BLM and FANCJ genes, respectively, which encode DNA helicases...
  9. Peng M, Litman R, Xie J, Sharma S, Brosh R, Cantor S. The FANCJ/MutLalpha interaction is required for correction of the cross-link response in FA-J cells. EMBO J. 2007;26:3238-49 pubmed
    b>FANCJ also called BACH1/BRIP1 was first linked to hereditary breast cancer through its direct interaction with BRCA1...

More Information

Publications87

  1. London T, Barber L, Mosedale G, Kelly G, Balasubramanian S, Hickson I, et al. FANCJ is a structure-specific DNA helicase associated with the maintenance of genomic G/C tracts. J Biol Chem. 2008;283:36132-9 pubmed publisher
    ..Here we demonstrate that one component of this pathway, FANCJ, is a structure-specific DNA helicase that dissociates guanine quadruplex DNA (G4 DNA) in vitro...
  2. Luo L, Lei H, Du Q, von Wachenfeldt A, Kockum I, Luthman H, et al. No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22. Int J Cancer. 2002;98:638-9 pubmed
  3. De Nicolo A, Tancredi M, Lombardi G, Flemma C, Barbuti S, Di Cristofano C, et al. A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. Clin Cancer Res. 2008;14:4672-80 pubmed publisher
    BRCA1-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...
  4. Levran O, Attwooll C, Henry R, Milton K, Neveling K, Rio P, et al. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet. 2005;37:931-3 pubmed
    ..Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1.
  5. Bridge W, Vandenberg C, Franklin R, Hiom K. The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Nat Genet. 2005;37:953-7 pubmed
    BRIP1 (also called BACH1) is a DEAH helicase that interacts with the BRCT domain of BRCA1 (refs. 1-6) and has an important role in BRCA1-dependent DNA repair and checkpoint functions...
  6. Kumaraswamy E, Shiekhattar R. Activation of BRCA1/BRCA2-associated helicase BACH1 is required for timely progression through S phase. Mol Cell Biol. 2007;27:6733-41 pubmed
    BACH1 (also known as FANCJ and BRIP1) is a DNA helicase that directly interacts with the C-terminal BRCT repeat of the breast cancer susceptibility protein BRCA1...
  7. Kote Jarai Z, Jugurnauth S, Mulholland S, Leongamornlert D, Guy M, Edwards S, et al. A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. Br J Cancer. 2009;100:426-30 pubmed publisher
    ..On the basis of the fact that BRIP1/FANCJ interacts with BRCA1 and functions as a regulator of DNA double-strand break repair pathways, and that ..
  8. Garcia Closas M, Egan K, Newcomb P, Brinton L, Titus Ernstoff L, Chanock S, et al. Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses. Hum Genet. 2006;119:376-88 pubmed
    ..We evaluated the association between 19 polymorphisms in seven genes in this pathway (XRCC2, XRCC3, BRCA2, ZNF350, BRIP1, XRCC4, LIG4) and breast cancer risk in two population-based studies in USA (3,368 cases and 2,880 controls) and ..
  9. Litman R, Peng M, Jin Z, Zhang F, Zhang J, Powell S, et al. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell. 2005;8:255-65 pubmed
    We showed in this study that cells deficient of the BRCA1-associated BACH1 helicase, also known as BRIP1, failed to elicit homologous recombination (HR) after DNA double-stranded breaks (DSBs)...
  10. Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006;38:1239-41 pubmed
    We identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9/1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2/2,081 controls (P = 0...
  11. Karppinen S, Vuosku J, Heikkinen K, Allinen M, Winqvist R. No evidence of involvement of germline BACH1 mutations in Finnish breast and ovarian cancer families. Eur J Cancer. 2003;39:366-71 pubmed
    Recently BACH1, a novel putative DNA helicase mapping to chromosome 17q22, was reported to interact specifically with BRCA1, and was suggested to be a candidate gene for predisposition to breast and ovarian cancers...
  12. Gong Z, Kim J, Leung C, Glover J, Chen J. BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control. Mol Cell. 2010;37:438-46 pubmed publisher
    ..In this study, we report a specific interaction between TopBP1 and BACH1/FANCJ, a DNA helicase involved in the repair of DNA crosslinks...
  13. Yu X, Chini C, He M, Mer G, Chen J. The BRCT domain is a phospho-protein binding domain. Science. 2003;302:639-42 pubmed
    ..that the BRCA1 BRCT domain directly interacts with phosphorylated BRCA1-Associated Carboxyl-terminal Helicase (BACH1)...
  14. Cantor S, Bell D, Ganesan S, Kass E, Drapkin R, Grossman S, et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell. 2001;105:149-60 pubmed
    BRCA1 interacts in vivo with a novel protein, BACH1, a member of the DEAH helicase family. BACH1 binds directly to the BRCT repeats of BRCA1...
  15. Sobhian B, Shao G, Lilli D, Culhane A, Moreau L, Xia B, et al. RAP80 targets BRCA1 to specific ubiquitin structures at DNA damage sites. Science. 2007;316:1198-202 pubmed
    ..These events are required for cell cycle checkpoint and repair responses to ionizing radiation, implicating ubiquitin chain recognition and turnover in the BRCA1-mediated repair of DSBs. ..
  16. Guenard F, Labrie Y, Ouellette G, Joly Beauparlant C, Simard J, Durocher F. Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families. J Hum Genet. 2008;53:579-91 pubmed publisher
    ..proteins (BRCA2/FANCD1 and PALB2/FANCN) in breast cancer susceptibility, we sought to evaluate the contribution of FANCJ gene alterations regarding breast cancer susceptibility among our cohort of 96 breast cancer individuals from high-..
  17. Gupta R, Sharma S, Sommers J, Kenny M, Cantor S, Brosh R. FANCJ (BACH1) helicase forms DNA damage inducible foci with replication protein A and interacts physically and functionally with the single-stranded DNA-binding protein. Blood. 2007;110:2390-8 pubmed
    The BRCA1 associated C-terminal helicase (BACH1, designated FANCJ) is implicated in the chromosomal instability genetic disorder Fanconi anemia (FA) and hereditary breast cancer...
  18. Song H, Ramus S, Kjaer S, Hogdall E, Dicioccio R, Whittemore A, et al. Tagging single nucleotide polymorphisms in the BRIP1 gene and susceptibility to breast and ovarian cancer. PLoS ONE. 2007;2:e268 pubmed
    b>BRIP1 interacts with BRCA1 and functions in regulating DNA double strand break repair pathways. Germline BRIP1 mutations are associated with breast cancer and Fanconi anemia...
  19. Shiozaki E, Gu L, Yan N, Shi Y. Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. Mol Cell. 2004;14:405-12 pubmed
    The recognition of the phosphorylated BACH1 helicase by the BRCA1 C-terminal (BRCT) repeats is important to the tumor suppressor function of BRCA1...
  20. Xie J, Litman R, Wang S, Peng M, Guillemette S, Rooney T, et al. Targeting the FANCJ-BRCA1 interaction promotes a switch from recombination to poleta-dependent bypass. Oncogene. 2010;29:2499-508 pubmed publisher
    BRCA1 and the DNA helicase FANCJ (also known as BACH1 or BRIP1) have common functions in breast cancer suppression and DNA repair. However, the functional significance of the direct interaction between BRCA1 and FANCJ remains unclear...
  21. Gupta R, Sharma S, Sommers J, Jin Z, Cantor S, Brosh R. Analysis of the DNA substrate specificity of the human BACH1 helicase associated with breast cancer. J Biol Chem. 2005;280:25450-60 pubmed
    We have investigated the DNA substrate specificity of BACH1 (BRCA1-associated C-terminal helicase). The importance of various DNA structural elements for efficient unwinding by purified recombinant BACH1 helicase was examined...
  22. Rutter J, Smith A, Dávila M, Sigurdson A, Giusti R, Pineda M, et al. Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals. Hum Mutat. 2003;22:121-8 pubmed
    ..breast cancer susceptibility genes, encoding the BRCA1-interacting proteins ZNF350 (or ZBRK1) and BRIP1 (or BACH1), have been identified in yeast two-hybrid screens...
  23. Sigurdson A, Hauptmann M, Chatterjee N, Alexander B, Doody M, Rutter J, et al. Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes. BMC Cancer. 2004;4:9 pubmed
    ..SNPs) in eight genes involved in base excision repair (XRCC1, APEX, POLD1), BRCA1 protein interaction (BRIP1, ZNF350, BRCA2), and growth regulation (TGFss1, IGFBP3) were evaluated...
  24. Katsuoka F, Yamamoto M. Small Maf proteins (MafF, MafG, MafK): History, structure and function. Gene. 2016;586:197-205 pubmed publisher
    ..heterodimers with cap 'n' collar (CNC) proteins (p45 NF-E2, Nrf1, Nrf2, and Nrf3) and also with Bach proteins (Bach1 and Bach2)...
  25. Rafnar T, Gudbjartsson D, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet. 2011;43:1104-7 pubmed publisher
    ..We discovered a rare (0.41% allelic frequency) frameshift mutation, c.2040_2041insTT, in the BRIP1 (FANCJ) gene that confers an increase in ovarian cancer risk (odds ratio (OR) = 8.13, P = 2.8 × 10(-14))...
  26. Ghazwani Y, Albalwi M, Al Abdulkareem I, Al Dress M, Alharbi T, Alsudairy R, et al. Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. Cancer Genet. 2016;209:171-6 pubmed publisher
    ..Four patients with severe aplastic anemia (SAA) had c.2392C > T (p.Arg798*) BRIP1/FANCJ mutation. Another child with SAA had novel c.1475T > C (p.Leu492Pro) FANCC mutation...
  27. Peng M, Xie J, Ucher A, Stavnezer J, Cantor S. Crosstalk between BRCA-Fanconi anemia and mismatch repair pathways prevents MSH2-dependent aberrant DNA damage responses. EMBO J. 2014;33:1698-712 pubmed publisher
    Several proteins in the BRCA-Fanconi anemia (FA) pathway, such as FANCJ, BRCA1, and FANCD2, interact with mismatch repair (MMR) pathway factors, but the significance of this link remains unknown...
  28. Sommers J, Banerjee T, Hinds T, Wan B, Wold M, Lei M, et al. Novel function of the Fanconi anemia group J or RECQ1 helicase to disrupt protein-DNA complexes in a replication protein A-stimulated manner. J Biol Chem. 2014;289:19928-41 pubmed publisher
    ..The Fanconi anemia group J (FANCJ) helicase partners with the single-stranded DNA-binding protein replication protein A (RPA) to displace BamHI-..
  29. Ma X, Cai G, Zou W, Huang Y, Zhang J, Wang D, et al. First evidence for the contribution of the genetic variations of BRCA1-interacting protein 1 (BRIP1) to the genetic susceptibility of cervical cancer. Gene. 2013;524:208-13 pubmed publisher
    b>BRIP1 (BRCA1-interacting protein 1), a DNA-dependent ATPase and a DNA helicase, is critical for BRCA-associated DNA damage repair functions, and may be involved in the development of cervical cancer...
  30. Kanzaki H, Shinohara F, Itohiya K, Yamaguchi Y, Katsumata Y, Matsuzawa M, et al. RANKL induces Bach1 nuclear import and attenuates Nrf2-mediated antioxidant enzymes, thereby augmenting intracellular reactive oxygen species signaling and osteoclastogenesis in mice. FASEB J. 2017;31:781-792 pubmed publisher
    ..Knockout mice of BTB and CNC homology 1 (Bach1)-the competitor for Nrf2 in transcriptional regulation-was known to attenuate RANKL-mediated osteoclastogenesis, ..
  31. Kobayashi M, Kato H, Hada H, Itoh Nakadai A, Fujiwara T, Muto A, et al. Iron-heme-Bach1 axis is involved in erythroblast adaptation to iron deficiency. Haematologica. 2017;102:454-465 pubmed publisher
    ..The transcription factor Bach1 may be involved in their regulatory roles since it is deactivated by direct binding of heme...
  32. Schulten H, Bangash M, Karim S, Dallol A, Hussein D, Merdad A, et al. Comprehensive molecular biomarker identification in breast cancer brain metastases. J Transl Med. 2017;15:269 pubmed publisher
    ..g. the coding genes BCL3, BNIP3, BNIP3P1, BRIP1, CASP14, CDC25A, DMBT1, IDH2, E2F1, MYCN, RAD51, RAD54L, and VDR...
  33. Liu Y, Lu F, Kang L, Wang Z, Wang Y. Pirfenidone attenuates bleomycin-induced pulmonary fibrosis in mice by regulating Nrf2/Bach1 equilibrium. BMC Pulm Med. 2017;17:63 pubmed publisher
    ..factor 2 (Nrf2)/[BTB (broad-complex, tramtrack and bric-a-brac) and CNC (cap'n'collar protein) homology 1, Bach1] determines the expression level of antioxidant factors, further regulating the function of oxidation/..
  34. Fang M, Hutchinson L, Deng A, Green M. Common BRAF(V600E)-directed pathway mediates widespread epigenetic silencing in colorectal cancer and melanoma. Proc Natl Acad Sci U S A. 2016;113:1250-5 pubmed publisher
    ..that includes its heterodimeric partner BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), the chromatin remodeling factor chromodomain helicase DNA-binding protein 8 (CHD8), and the DNA ..
  35. Türke C, Horn S, Petto C, Labudde D, Lauer G, Wittenburg G. Loss of heterozygosity in FANCG, FANCF and BRIP1 from head and neck squamous cell carcinoma of the oral cavity. Int J Oncol. 2017;50:2207-2220 pubmed publisher
    ..In the present study, we analysed three FA genes; FANCF, FANCG and BRIP1, that are involved in the repair of DNA inter strand cross-links, in HNSCC and their potential role for patient ..
  36. Su C, Liu Z, Wang Y, Wang Y, Song E, Song Y. The electrophilic character of quinones is essential for the suppression of Bach1. Toxicology. 2017;387:17-26 pubmed publisher
    ..BTB and CNC homology-1 (Bach1), like Kelch-like ECH-associated protein 1 (Keap1), is one of a negative regulator of Nrf2 that control ..
  37. Pomatto L, Davies K. The role of declining adaptive homeostasis in ageing. J Physiol. 2017;: pubmed publisher
    ..Emerging work points to Nrf2-Keap1 signal transduction pathway inhibitors, including Bach1 and c-Myc, both of whose tissue concentrations increase with age, as possible major causes for age-dependent loss ..
  38. Chang W, Thai P, Xu J, Yang D, Wu R, Chen C. Cigarette Smoke Regulates the Competitive Interactions between NRF2 and BACH1 for Heme Oxygenase-1 Induction. Int J Mol Sci. 2017;18: pubmed publisher
    ..In light of a pivotal role of NRF2 and BACH1 in response to oxidative stress and regulation of HO-1, we examined if smoke-induced HO-1 expression ..
  39. Huang G, Feng J, Hao S, Li D, Wang K, Wang L, et al. CASP8, XRCC1, WRN, NF2, and BRIP1 Polymorphisms Analysis Shows Their Genetic Susceptibility for Meningioma Risk and the Association with Tumor-Related Phenotype in a Chinese Population. World Neurosurg. 2018;114:e883-e891 pubmed publisher
    To investigate 10 candidate single nucleotide polymorphisms (SNPs) in 5 genes (CASP8, XRCC1, WRN, NF2, and BRIP1) to confirm the association between the 5 genes and the meningioma risk in a Chinese population...
  40. Huo X, Lu C, Huang X, Hu Z, Jin G, Ma H, et al. Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women. J Cancer Res Clin Oncol. 2009;135:1569-75 pubmed publisher
    BRCA1-interacting protein C-terminal helicase 1 (BRIP1) and zinc finger protein 350 (ZNF350) work with BRCA1 in tumor suppression procedures...
  41. Zhang F, Fan Q, Ren K, Auerbach A, Andreassen P. FANCJ/BRIP1 recruitment and regulation of FANCD2 in DNA damage responses. Chromosoma. 2010;119:637-49 pubmed publisher
    b>FANCJ/BRIP1 encodes a helicase that has been implicated in the maintenance of genomic stability. Here, to better understand FANCJ function in DNA damage responses, we have examined the regulation of its cellular localization...
  42. Bharti S, Awate S, Banerjee T, Brosh R. Getting Ready for the Dance: FANCJ Irons Out DNA Wrinkles. Genes (Basel). 2016;7: pubmed publisher
    ..New advances in the field implicate a direct role of the Fanconi Anemia Group J (FANCJ) helicase, which is linked to a hereditary chromosomal instability disorder and important for cancer suppression, ..
  43. Zhang L, Zhang D, Zhao X, Sun W. Erythropoietin Rescues Primary Rat Cortical Neurons by Altering the Nrf2:Bach1 Ratio: Roles of Extracellular Signal-Regulated Kinase 1/2. Neurochem Res. 2017;: pubmed publisher
    ..Alteration of the nuclear factor erythroid 2-related factor (Nrf2)/BTB-to-CNC homology 1 (Bach1) ratio by Erk1/2 ameliorates the oxidative stress which occurs in human macrophages...
  44. Matsumoto M, Kondo K, Shiraki T, Brydun A, Funayama R, Nakayama K, et al. Genomewide approaches for BACH1 target genes in mouse embryonic fibroblasts showed BACH1-Pparg pathway in adipogenesis. Genes Cells. 2016;21:553-67 pubmed publisher
    The transcription repressor BTB and CNC homology 1 (BACH1) represses genes involved in heme metabolism and oxidative stress response. BACH1 also suppresses the p53-dependent cellar senescence in primary mouse embryonic fibroblasts (MEFs)...
  45. Jez M, Ciesla M, Stepniewski J, Langrzyk A, Muchova L, Vitek L, et al. Valproic acid downregulates heme oxygenase-1 independently of Nrf2 by increasing ubiquitination and proteasomal degradation. Biochem Biophys Res Commun. 2017;485:160-166 pubmed publisher
    ..of HO-1 expression through ARE sequence, was excluded as a mediator of HO-1 decrease, as VA downregulated Bach1, a Nrf2 repressor, concomitantly upregulating ARE activation...
  46. Zhou L, Zhang H, Davies K, Forman H. Aging-related decline in the induction of Nrf2-regulated antioxidant genes in human bronchial epithelial cells. Redox Biol. 2018;14:35-40 pubmed publisher
    ..Furthermore, we found that the basal expression of both Bach1 and c-Myc, two Nrf2 suppressors, was higher in cells from older adults than from young adult donors...
  47. Guillemette S, Branagan A, Peng M, Dhruva A, SCHARER O, Cantor S. FANCJ localization by mismatch repair is vital to maintain genomic integrity after UV irradiation. Cancer Res. 2014;74:932-44 pubmed publisher
    ..including XPF and XPG, promotes the S-phase accumulation of the BRCA1 and Fanconi anemia-associated DNA helicase FANCJ to sites of UV-induced damage...
  48. Pabalan N, Jarjanazi H, Ozcelik H. Association between BRIP1 (BACH1) polymorphisms and breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 2013;137:553-8 pubmed publisher
    Inconsistency of reported associations between the Pro919Ser polymorphism in the BRCA1 interacting protein 1 (BRIP1) gene and breast cancer prompted us to undertake a meta-analysis...
  49. Frye S, Beyene G, Namouchi A, Gómez Muñoz M, Homberset H, Kalayou S, et al. The helicase DinG responds to stress due to DNA double strand breaks. PLoS ONE. 2017;12:e0187900 pubmed publisher
    ..The neisserial DNA damage-inducible protein DinG is a helicase related to the mammalian helicases XPD and FANCJ. These helicases belong to superfamily 2, are ATP dependent and exert 5' ? 3' directionality...
  50. Ma X, Cai G, Zou W, Huang Y, Zhang J, Wang D, et al. BRIP1 variations analysis reveals their relative importance as genetic susceptibility factor for cervical cancer. Biochem Biophys Res Commun. 2013;433:232-6 pubmed publisher
    To evaluate the association between gene variations in BRIP1 (BRCA1-interacting protein 1) and the risk of cervical cancer, we examined eight single nucleotide polymorphisms (SNPs: rs2048718, rs12937080, rs4988344, rs6504074, rs4988345, ..
  51. Guo M, Vidhyasagar V, Ding H, Wu Y. Insight into the roles of helicase motif Ia by characterizing Fanconi anemia group J protein (FANCJ) patient mutations. J Biol Chem. 2014;289:10551-65 pubmed publisher
    ..b>FANCJ is a DNA helicase that is genetically linked to Fanconi anemia, breast cancer, and ovarian cancer...
  52. Kim H, Cho D, Choi D, Jung G, Shin I, Park W, et al. Analysis of BRIP1 Variants among Korean Patients with BRCA1/2 Mutation-Negative High-Risk Breast Cancer. Cancer Res Treat. 2016;48:955-61 pubmed publisher
    The aim of the current study is to assess the spectrum of genetic variation in the BRIP1 gene among Korean high-risk breast cancer patients who tested negative for the BRCA1/2 mutation...
  53. Tischkowitz M, Hamel N, Carvalho M, Birrane G, Soni A, van Beers E, et al. Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Eur J Hum Genet. 2008;16:820-32 pubmed publisher
    ..pocket of the BRCA1 BRCT domains, thereby inhibiting the BRCA1 interaction with the proteins BRIP1 and CtIP, which are involved in DNA damage-induced checkpoint control...
  54. Silvestri V, Rizzolo P, Falchetti M, Zanna I, Masala G, Bianchi S, et al. Mutation analysis of BRIP1 in male breast cancer cases: a population-based study in Central Italy. Breast Cancer Res Treat. 2011;126:539-43 pubmed publisher
    ..As other BRCA1/2 functionally related DNA repair genes, such as CHEK2 and PALB2, BRIP1 is considered a moderate-penetrance BC susceptibility gene...
  55. Sommers J, Rawtani N, Gupta R, Bugreev D, Mazin A, Cantor S, et al. FANCJ uses its motor ATPase to destabilize protein-DNA complexes, unwind triplexes, and inhibit RAD51 strand exchange. J Biol Chem. 2009;284:7505-17 pubmed publisher
    Mutations in the FANCJ helicase predispose individuals to breast cancer and are genetically linked to the Fanconi anemia (FA) complementation group J...
  56. Slavin T, Neuhausen S, Rybak C, Solomon I, Nehoray B, Blazer K, et al. Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network. Cancer Genet. 2017;216-217:111-119 pubmed publisher
    ..Of the remaining 10, six were in BRCA1 DNA damage response pathway genes (ATM, ATR, BRCA2, BRIP1, FANCC, TP53), other variants were identified in CTNNA1, FLCN, SBDS, and GNAS...
  57. Pooley K, Baynes C, Driver K, Tyrer J, Azzato E, Pharoah P, et al. Common single-nucleotide polymorphisms in DNA double-strand break repair genes and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2008;17:3482-9 pubmed publisher
    ..receptor status-specific susceptibility and evidence of roles in long-term survival, with the rare allele of BRIP1 rs2191249 showing evidence of association with a poorer prognosis (hazard ratio per minor allele, 1.20; 95% CI, 1...
  58. Catucci I, Milgrom R, Kushnir A, Laitman Y, Paluch Shimon S, Volorio S, et al. Germline mutations in BRIP1 and PALB2 in Jewish high cancer risk families. Fam Cancer. 2012;11:483-91 pubmed publisher
    Germline mutations in BRCA1 and BRCA2 account for ~30 % of inherited breast cancer. BRIP1 and PALB2 are likely genes for breast cancer susceptibility, based on their roles in maintaining cellular integrity...
  59. Dang H, Zheng P, Liu Y, Wu X, Wu X. MicroRNA-543 acts as a prognostic marker and promotes the cell proliferation in cervical cancer by BRCA1-interacting protein 1. Tumour Biol. 2017;39:1010428317691187 pubmed publisher
  60. Xie J, Peng M, Guillemette S, Quan S, Maniatis S, Wu Y, et al. FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response. PLoS Genet. 2012;8:e1002786 pubmed publisher
    ..BRCA1 promotes DNA repair through interactions with multiple proteins, including CtIP and FANCJ (also known as BRIP1/BACH1)...
  61. Monteiro L, Khongkow P, Kongsema M, Morris J, Man C, Weekes D, et al. The Forkhead Box M1 protein regulates BRIP1 expression and DNA damage repair in epirubicin treatment. Oncogene. 2013;32:4634-45 pubmed publisher
    ..We also identify BRIP1 as a direct transcription target of FOXM1 by promoter analysis and chromatin-immunoprecipitation assay...
  62. Barroso E, Pita G, Arias J, Menendez P, Zamora P, Blanco M, et al. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. Breast Cancer Res Treat. 2009;118:655-60 pubmed publisher
    ..breast and ovarian cancer (HBOC), since FANCD1 is the BRCA2 breast cancer susceptibility gene, and FANCN/PALB2 and FANCJ/BRIP1 explain 2% of non-BRCA1/2 HBOC families. Thus, there is an important connection between FA and BRCA pathways...
  63. Solyom S, Pylkäs K, Winqvist R. Screening for large genomic rearrangements of the BRIP1 and CHK1 genes in Finnish breast cancer families. Fam Cancer. 2010;9:537-40 pubmed publisher
    ..clustering in Finland, we set out to evaluate the presence of large genomic rearrangements in two candidate genes, BRIP1 and CHK1...
  64. Ameziane N, van den Ouweland A, Adank M, Vijzelaar R, Errami A, Dorsman J, et al. Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer. Breast Cancer Res Treat. 2009;118:651-3 pubmed publisher
  65. Byrnes G, Southey M, Hopper J. Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?. Breast Cancer Res. 2008;10:208 pubmed publisher
    ..Several studies found that the frequencies of mutations in ATM, BRIP1, PALB2 and CHEK2 were many times greater for cases with a strong family history than for controls...
  66. Smith I, Mithani S, Mydlarz W, Chang S, Califano J. Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers. ORL J Otorhinolaryngol Relat Spec. 2010;72:44-50 pubmed publisher
    ..Three gene promoters showed differences in methylation: FancB (FAAP95, FA core complex), FancJ (BRIP1, DNA Helicase/ATPase), and DKC1 (dyskeratin)...
  67. García Expósito L, Bournique E, Bergoglio V, Bose A, Barroso González J, Zhang S, et al. Proteomic Profiling Reveals a Specific Role for Translesion DNA Polymerase ? in the Alternative Lengthening of Telomeres. Cell Rep. 2016;17:1858-1871 pubmed publisher
    ..These include the specialized translesion DNA synthesis (TLS) proteins FANCJ-RAD18-PCNA and, most notably, DNA polymerase eta (Pol?)...
  68. Sung P, Wen K, Chen Y, Chao T, Tsai Y, Tseng L, et al. The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. PLoS ONE. 2017;12:e0185615 pubmed publisher
    ..5164_5165 delAG), were found. The main pathogenic/likely pathogenic mutations in non-BRCA1/2 genes included ATM, BRIP1, FANCI, MSH2, MUYTH, RAD50, RAD51C and TP53...
  69. Ray A, Zuhlke K, Johnson G, Levin A, Douglas J, Lange E, et al. Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families. Br J Cancer. 2009;101:2043-7 pubmed publisher
    ..BRIP1 is a Fanconi anaemia gene (FANCJ) that interacts with the BRCT domain of BRCA1 and has a role in DNA damage repair...
  70. Thanassoulas A, Nomikos M, Theodoridou M, Yannoukakos D, Mastellos D, Nounesis G. Thermodynamic study of the BRCT domain of BARD1 and its interaction with the -pSER-X-X-Phe- motif-containing BRIP1 peptide. Biochim Biophys Acta. 2010;1804:1908-16 pubmed publisher
    ..While BRCA1-BRCT has been shown to mediate BRCA1 interactions with phosphoproteins such as BRIP1 by recognizing the pSer-X-X-Phe motif, attempts to demonstrate analogous interactions of its dimeric counterpart ..
  71. Takata K, Tomida J, Reh S, Swanhart L, Takata M, Hukriede N, et al. Conserved overlapping gene arrangement, restricted expression, and biochemical activities of DNA polymerase ν (POLN). J Biol Chem. 2015;290:24278-93 pubmed publisher
    ..in human cells, it specifically coimmunoprecipitated with the homologous recombination factors BRCA1 and FANCJ, but not with previously suggested interaction partners (HELQ and members of the Fanconi anemia core complex)...
  72. Figueroa J, Malats N, Rothman N, Real F, Silverman D, Kogevinas M, et al. Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk. Carcinogenesis. 2007;28:1788-93 pubmed
    ..SNPs) in seven candidate genes whose products are involved in DNA break sensing (NBS1, BRCA1 interacting genes BRIP1 and ZNF350), non-homologous end-joining (NHEJ) DNA repair (XRCC4) and homologous recombination (HR) repair (RAD51, ..
  73. Mori R, Yoshida K, Tanahashi T, Yawata K, Kato J, Okumura N, et al. Decreased FANCJ caused by 5FU contributes to the increased sensitivity to oxaliplatin in gastric cancer cells. Gastric Cancer. 2013;16:345-54 pubmed publisher
    ..The FANCJ protein is one of the Fanconi anemia (FA) gene products, and its interaction with the tumor suppressor BRCA1 is ..
  74. Tseng C, Lin C, Chen Y, Tseng C, Lee J, Lee J. Discovery of naphtho[1,2-d]oxazole derivatives as potential anti-HCV agents through inducing heme oxygenase-1 expression. Eur J Med Chem. 2018;143:970-982 pubmed publisher
    ..We further found that compound 18 reduced bach1 expression resulting in increasing the activity of Nrf-2 binding element...
  75. Wu Y, Sommers J, Suhasini A, Leonard T, Deakyne J, Mazin A, et al. Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes. Blood. 2010;116:3780-91 pubmed publisher
    ..b>FANCJ, one of 13 genes linked to FA, encodes a DNA helicase proposed to operate in homologous recombination repair and ..
  76. Wong M, Nordfors C, Mossman D, Pecenpetelovska G, Avery Kiejda K, Talseth Palmer B, et al. BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. Breast Cancer Res Treat. 2011;127:853-9 pubmed publisher
    ..In this study, BRIP1, PALB2, and RAD51C were sequenced for mutations as a result of previously being associated with breast cancer risk ..
  77. Oussalah A, Avogbe P, Guyot E, Chery C, Guéant Rodriguez R, Ganne Carrie N, et al. BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease. Oncotarget. 2017;8:62842-62857 pubmed publisher
    ..In the Derivation#1 study, the BRIP1 locus reached array-wide significance (Chi-squared SV-Perm, P=5...
  78. Chen X, Wilson J, McChesney P, Williams S, Kwon Y, Longerich S, et al. The Fanconi anemia proteins FANCD2 and FANCJ interact and regulate each other's chromatin localization. J Biol Chem. 2014;289:25774-82 pubmed publisher
    ..been identified in patients, with the Fanconi anemia subtype J (FA-J) resulting from homozygous mutations in the FANCJ gene. Here, we describe the direct interaction of FANCD2 with FANCJ...