The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Abstract
Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J (FA-D1 and FA-J) have normal FANCD2 ubiquitination. 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.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The most common FANCJ germline mutant allele is R798x.
“Of all the FANCJ germline mutations, the most common mutant allele is FANCJ R798x.”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [28]
Bi-allelic mutations in BACH1/FANCJ/BRIP1 or PALB2/FANCN cause the FA subtypes FA-J or FA-N, respectively.
“Similarly, inheriting bi-allelic mutations in BACH1/FANCJ/ BRIP1 or PALB2/FANCN genes results in the FA subtypes FA-J or FA-N, respectively (Figure 1) [26–30].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [28]
Several FANCJ mutations targeting noncoding genomic DNA have been identified in breast cancer and Fanconi anemia patients.
“Along these lines, several FANCJ mutations targeting noncoding genomic DNA have been identified in both breast cancer and FA patients [28,43].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [28]
Cites
Brca1 Controls Homology-Directed DNA Repair
Moynahan, M. E., Chiu, J. W., Koller, B. H., & Jasin, M. (1999) · Molecular Cell · doi:10.1016/s1097-2765(00)80202-6 · Cited by 1,245 · see citing works
Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway
Garcia-Higuera, I., Taniguchi, T., Ganesan, S., Meyn, M. S., Timmers, C., Hejna, J., Grompe, M., & D'Andrea, A. D. (2001) · Molecular Cell · doi:10.1016/s1097-2765(01)00173-3 · Cited by 1,198 · see citing works
Biallelic Inactivation of <i>BRCA2</i> in Fanconi Anemia
Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., et al. (2002) · Science · doi:10.1126/science.1073834 · Cited by 1,149 · see citing works
A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
Kutler, D. I., Singh, B., Satagopan, J. M., Batish, S. D., Berwick, M., Giampietro, P. F., Hanenberg, H., & Auerbach, A. D. (2003) · Blood · doi:10.1182/blood-2002-07-2170 · Cited by 760 · see citing works
Self-citationCantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00304-x · Cited by 674 · see citing works
A novel ubiquitin ligase is deficient in Fanconi anemia
Meetei, A. R., de Winter, J. P., Medhurst, A. L., Wallisch, M., Waisfisz, Q., van de Vrugt, H. J., Oostra, A. B., Yan, Z., Ling, C., Bishop, C. E., et al. (2003) · Nature Genetics · doi:10.1038/ng1241 · Cited by 566 · see citing works
X-linked inheritance of Fanconi anemia complementation group B
Meetei, A. R., Levitus, M., Xue, Y., Medhurst, A. L., Zwaan, M. C., Chen, L., Rooimans, M. A., Bier, P., Hoatlin, M. E., Pals, G., et al. (2004) · Nature Genetics · doi:10.1038/ng1458 · Cited by 322 · see citing works
RAD51C Is Required for Holliday Junction Processing in Mammalian Cells
Liu, Y., Masson, J., Punatar, R. S., O’Regan, P., & West, S. C. (2004) · Science · doi:10.1126/science.1093037 · Cited by 310 · see citing works
Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S., & Livingston, D. M. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308717101 · Cited by 240 · see citing works
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes
Levitus, M., Rooimans, M. A., Steltenpool, J., Cool, N. F. C., Oostra, A. B., Mathew, C. G., Hoatlin, M. E., Waisfisz, Q., Arwert, F., de Winter, J. P., et al. (2003) · Blood · doi:10.1182/blood-2003-08-2915 · Cited by 237 · see citing works
Rutter, J. L., Smith, A. M., Dávila, M. R., Sigurdson, A. J., Giusti, R. M., Pineda, M. A., Doody, M. M., Tucker, M. A., Greene, M. H., Zhang, J., et al. (2003) · Human Mutation · doi:10.1002/humu.10238 · Cited by 55 · see citing works
A locus for Fanconi anemia on 16q determined by homozygosity mapping.
Gschwend, M., Levran, O., Kruglyak, L., Ranade, K., Verlander, P. C., Shen, S., Fauré, S., Weissenbach, J., Altay, Ç., Lander, E. S., et al. (1996) · PubMed Central · Cited by 31 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,002 · see citing works
Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis
Moynahan, M. E., & Jasin, M. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2851 · Cited by 923 · see citing works
Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial
Tutt, A. N. J., Tovey, H., Cheang, M. C. U., Kernaghan, S., Kilburn, L., Gazińska, P., Owen, J., Abraham, J., Barrett, S., Barrett-Lee, P. J., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0009-7 · Cited by 909 · see citing works
Homologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins
Prakash, R., Zhang, Y., Feng, W., & Jasin, M. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016600 · Cited by 869 · see citing works
The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1902 · Cited by 746 · see citing works
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins
Wang, W. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2159 · Cited by 663 · see citing works
Fanconi anaemia and the repair of Watson and Crick DNA crosslinks
Kottemann, M. C., & Smogorzewska, A. (2013) · Nature · doi:10.1038/nature11863 · Cited by 608 · see citing works
How the Fanconi Anemia Pathway Guards the Genome
Moldovan, G., & D’Andrea, A. D. (2009) · Annual Review of Genetics · doi:10.1146/annurev-genet-102108-134222 · Cited by 586 · see citing works
The role of double-strand break repair — insights from human genetics
O’Driscoll, M., & Jeggo, P. A. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1746 · Cited by 581 · see citing works
PALB2 Links BRCA1 and BRCA2 in the DNA-Damage Response
Zhang, F., Ma, J., Wu, J., Ye, L., Cai, H., Xia, B., & Yu, X. (2009) · Current Biology · doi:10.1016/j.cub.2009.02.018 · Cited by 556 · see citing works
The emerging landscape of breast cancer susceptibility
Stratton, M. R., & Rahman, N. (2008) · Nature Genetics · doi:10.1038/ng.2007.53 · Cited by 487 · see citing works
The Fanconi Anemia/BRCA pathway: new faces in the crowdPreprint
Kennedy, R. D., & D’Andrea, A. D. (2005) · Genes & Development · doi:10.1101/gad.1370505 · Cited by 464 · see citing works
Wu, Y., Shin-ya, K., & Brosh, R. M. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.02210-07 · Cited by 428 · see citing works
Mutations in BRIP1 confer high risk of ovarian cancer
Rafnar, Þ., Gudbjartsson, D. F., Sulem, P., Jónasdóttir, Á., Sigurðsson, Á., Jónasdóttir, A., Besenbacher, S., Lundin, P., Stacey, S., Guðmundsson, J., et al. (2011) · Nature Genetics · doi:10.1038/ng.955 · Cited by 406 · see citing works
Molecular pathogenesis of Fanconi anemia: recent progress
Taniguchi, T., & D’Andrea, A. D. (2006) · Blood · doi:10.1182/blood-2005-10-4240 · Cited by 387 · see citing works
Fanconi anaemia and cancer: an intricate relationship
Nalepa, G., & Clapp, D. W. (2018) · Nature reviews. Cancer · doi:10.1038/nrc.2017.116 · Cited by 388 · see citing works
Susceptibility Pathways in Fanconi's Anemia and Breast Cancer
D’Andrea, A. D. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0809889 · Cited by 380 · see citing works
Fan, L., Fuss, J. O., Cheng, Q. J., Arvai, A. S., Hammel, M., Roberts, V. A., Cooper, P. K., & Tainer, J. A. (2008) · Cell · doi:10.1016/j.cell.2008.04.030 · Cited by 369 · see citing works
Thompson, L. H. (2012) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2012.06.002 · Cited by 357 · see citing works
DNA helicases involved in DNA repair and their roles in cancer
Brosh, R. M. (2013) · Nature reviews. Cancer · doi:10.1038/nrc3560 · Cited by 345 · see citing works
Replication gaps are a key determinant of PARP inhibitor synthetic lethality with BRCA deficiency
Cong, K., Peng, M., Kousholt, A. N., Lee, W. T. C., Lee, S., Nayak, S. U., Krais, J. J., VanderVere-Carozza, P. S., Pawelczak, K. S., Calvo, J. A., et al. (2021) · Molecular Cell · doi:10.1016/j.molcel.2021.06.011 · Cited by 348 · see citing works
Shaw-Smith, C. J. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.038158 · Cited by 346 · see citing works
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Alter, B. P., Rosenberg, P. S., & Brody, L. C. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043257 · Cited by 337 · see citing works
The DNA Repair Helicases XPD and FancJ Have Essential Iron-Sulfur Domains
Rudolf, J., Makrantoni, V., Ingledew, W. J., Stark, M. J. R., & White, M. F. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.07.019 · Cited by 330 · see citing works
Identification of FAAP24, a Fanconi Anemia Core Complex Protein that Interacts with FANCM
Ciccia, A., Ling, C., Coulthard-Graf, R., Yan, Z., Xue, Y., Meetei, A. R., Laghmani, E. H., Joenje, H., McDonald, N. Q., de Winter, J. P., et al. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.01.003 · Cited by 321 · see citing works
Expanded roles of the Fanconi anemia pathway in preserving genomic stabilityPreprint
Kee, Y., & D’Andrea, A. D. (2010) · Genes & Development · doi:10.1101/gad.1955310 · Cited by 309 · see citing works
DNA Strand Break Repair and Human Genetic Disease
McKinnon, P. J., & Caldecott, K. W. (2007) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115648 · Cited by 303 · see citing works
Genetic Predisposition to Breast Cancer: Past, Present, and Future
Turnbull, C., & Rahman, N. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164339 · Cited by 301 · see citing works
Fanconi Anemia (Cross)linked to DNA Repair
Niedernhofer, L. J., Lalai, A. S., & Hoeijmakers, J. H. J. (2005) · Cell · doi:10.1016/j.cell.2005.12.009 · Cited by 290 · see citing works
DNA Repair Pathways in Clinical Practice: Lessons From Pediatric Cancer Susceptibility Syndromes
Kennedy, R. D., & D’Andrea, A. D. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2005.05.4171 · Cited by 283 · see citing works
Structural and Functional Relationships of the XPF/MUS81 Family of Proteins
Ciccia, A., McDonald, N. Q., & West, S. C. (2008) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.77.070306.102408 · Cited by 278 · see citing works
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway
Sims, A. E., Spiteri, E., Sims, R. J., Arita, A., Lach, F. P., Landers, T., Wurm, M., Freund, M., Neveling, K., Hanenberg, H., et al. (2007) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1252 · Cited by 275 · see citing works
Self-citationG‐quadruplex nucleic acids and human disease
Wu, Y., & Brosh, R. M. (2010) · FEBS Journal · doi:10.1111/j.1742-4658.2010.07760.x · Cited by 262 · see citing works
Emerging critical roles of Fe–S clusters in DNA replication and repair
Fuss, J. O., Tsai, C.-L., Ishida, J. P., & Tainer, J. A. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.01.018 · Cited by 253 · see citing works
FANCJ Is a Structure-specific DNA Helicase Associated with the Maintenance of Genomic G/C Tracts
London, T. B. C., Barber, L. J., Mosedale, G., Kelly, G. P., Balasubramanian, S., Hickson, I. D., Boulton, S. J., & Hiom, K. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m808152200 · Cited by 252 · see citing works
Biogenesis of cytosolic and nuclear iron–sulfur proteins and their role in genome stability
Paul, V. D., & Lill, R. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2014.12.018 · Cited by 247 · see citing works
Mutagenic Capacity of Endogenous G4 DNA Underlies Genome Instability in FANCJ-Defective C. elegans
Kruisselbrink, E., Guryev, V., Brouwer, K., Pontier, D. B., Cuppen, E., & Tijsterman, M. (2008) · Current Biology · doi:10.1016/j.cub.2008.05.013 · Cited by 209 · see citing works
Fanconi anaemia genes and susceptibility to cancer
Mathew, C. G. (2006) · Oncogene · doi:10.1038/sj.onc.1209878 · Cited by 209 · see citing works
The genetic and molecular basis of Fanconi anemia
de Winter, J. P., & Joenje, H. (2008) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2008.11.004 · Cited by 206 · see citing works
Chemosensitization to cisplatin by inhibitors of the Fanconi anemia/BRCA pathway
Chirnomas, D., Taniguchi, T., de la Vega, M., Vaidya, A. P., Vasserman, M., Hartman, A., Kennedy, R. D., Foster, R., Mahoney, J., Seiden, M. V., et al. (2006) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-05-0493 · Cited by 204 · see citing works
Interplay between Fanconi anemia and homologous recombination pathways in genome integrity
Michl, J., Zimmer, J., & Tarsounas, M. (2016) · The EMBO Journal · doi:10.15252/embj.201693860 · Cited by 204 · see citing works
Linking the Cellular Functions ofBRCAGenes to Cancer Pathogenesis and Treatment
Venkitaraman, A. R. (2008) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev.pathol.3.121806.151422 · Cited by 199 · see citing works
The therapeutic significance of mutational signatures from DNA repair deficiency in cancer
Ma, J., Setton, J. S., Lee, N. Y., Riaz, N., & Powell, S. N. (2018) · Nature Communications · doi:10.1038/s41467-018-05228-y · Cited by 192 · see citing works
Regulatory ubiquitylation in response to DNA double-strand breaks
Panier, S., & Durocher, D. (2009) · DNA repair · doi:10.1016/j.dnarep.2009.01.013 · Cited by 193 · see citing works
Cell cycle–dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24
Kim, J. M., Kee, Y., Gurtan, A. M., & D’Andrea, A. D. (2008) · Blood · doi:10.1182/blood-2007-09-113092 · Cited by 189 · see citing works
The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers
Friedenson, B. (2007) · BMC Cancer · doi:10.1186/1471-2407-7-152 · Cited by 187 · see citing works
The FANCJ/MutLα interaction is required for correction of the cross‐link response in FA‐J cells
Peng, M., Litman, R., Xie, J., Sharma, S., Brosh, R. M., & Cantor, S. B. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601754 · Cited by 181 · see citing works
FAAP100 is essential for activation of the Fanconi anemia‐associated DNA damage response pathway
Ling, C., Ishiai, M., Ali, A. M., Medhurst, A. L., Neveling, K., Kalb, R., Yan, Z., Xue, Y., Oostra, A. B., Auerbach, A. D., et al. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601666 · Cited by 167 · see citing works
Self-citationCharacterization of the Interactome of the Human MutL Homologues MLH1, PMS1, and PMS2
Cannavò, E., Gerrits, B., Marra, G., Schlapbach, R., & Jiricny, J. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m609989200 · Cited by 158 · see citing works
BACH1/FANCJ Acts with TopBP1 and Participates Early in DNA Replication Checkpoint Control
Gong, Z., Kim, J.-E., Leung, C. C. Y., Glover, J. N. M., & Chen, J. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.01.002 · Cited by 160 · see citing works
DNA Helicases Required for Homologous Recombination and Repair of Damaged Replication Forks
Wu, L., & Hickson, I. D. (2006) · Annual Review of Genetics · doi:10.1146/annurev.genet.40.110405.090636 · Cited by 158 · see citing works
Collaborators, T. U., Leongamornlert, D. A., Saunders, E. J., Dadaev, T., Tymrakiewicz, M., Goh, C. L., Jugurnauth-Little, S., Kozarewa, I., Fenwick, K., Assiotis, I., et al. (2014) · British Journal of Cancer · doi:10.1038/bjc.2014.30 · Cited by 157 · see citing works
Thompson, L. H., & Hinz, J. M. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.02.003 · Cited by 154 · see citing works
FANCJ promotes DNA synthesis through G‐quadruplex structures
Bosch, P. C., Segura‐Bayona, S., Koole, W., Heteren, J. T. V., Dewar, J. M., Tijsterman, M., & Knipscheer, P. (2014) · The EMBO Journal · doi:10.15252/embj.201488663 · Cited by 154 · see citing works
Genotype–phenotype correlations in Fanconi anemia
Neveling, K., Endt, D., Hoehn, H., & Schindler, D. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.05.006 · Cited by 144 · see citing works
Self-citationDNA helicase and helicase-nuclease enzymes with a conserved iron-sulfur cluster
Wu, Y., & Brosh, R. M. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks039 · Cited by 142 · see citing works
Kalb, R., Neveling, K., Hoehn, H., Schneider, H., Linka, Y., Batish, S. D., Hunt, C., Berwick, M., Callén, E., Surrallés, J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/517616 · Cited by 139 · see citing works
Self-citationRAD51C is a susceptibility gene for ovarian cancer
Pelttari, L. M., Heikkinen, T., Thompson, D. J., Kallioniemi, A. H., Schleutker, J., Holli, K., BLOMQVIST, C. P., Aittomäki, K., Bützow, R. C., & Nevanlinna, H. A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr229 · Cited by 136 · see citing works
Singh, T. R., Bakker, S. T., Agarwal, S., Jansen, M., Grassman, E., Godthelp, B. C., Ali, A. M., Du, C.-H., Rooimans, M. A., Fan, Q., et al. (2009) · Blood · doi:10.1182/blood-2009-02-207811 · Cited by 135 · see citing works
What is the DNA repair defect underlying Fanconi anemia?
Duxin, J. P., & Walter, J. C. (2015) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2015.09.002 · Cited by 136 · see citing works
Bagby, G. C., & Alter, B. P. (2006) · Seminars in Hematology · doi:10.1053/j.seminhematol.2006.04.005 · Cited by 136 · see citing works
TNF-α induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells
Li, J., Sejas, D. P., Zhang, X., Qiu, Y., Nattamai, K., Rani, R., Rathbun, K. R., Geiger, H., Williams, D. A., Bagby, G. C., et al. (2007) · Journal of Clinical Investigation · doi:10.1172/jci31772 · Cited by 134 · see citing works
RTEL1: functions of a disease-associated helicase
Vannier, J., Sarek, G., & Boulton, S. J. (2014) · Trends in Cell Biology · doi:10.1016/j.tcb.2014.01.004 · Cited by 134 · see citing works
A practical guide to the management of anophthalmia and microphthalmia
Ragge, N., Subak-Sharpe, I. D., & Collin, J. R. O. (2007) · Eye · doi:10.1038/sj.eye.6702858 · Cited by 130 · see citing works
Oxidative Stress in Fanconi Anemia Hematopoiesis and Disease Progression
Du, W., Ádám, Z., Rani, R., Zhang, X., & Pang, Q. (2008) · Antioxidants and Redox Signaling · doi:10.1089/ars.2008.2129 · Cited by 129 · see citing works
RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination
Uringa, E.-J., Youds, J. L., Lisaingo, K., Lansdorp, P. M., & Boulton, S. J. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq1045 · Cited by 124 · see citing works
FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair
Xue, Y., Li, Y., Guo, R., Ling, C., & Wang, W. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn054 · Cited by 121 · see citing works
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair
Peake, J. D., & Noguchi, E. (2022) · Human Genetics · doi:10.1007/s00439-022-02462-9 · Cited by 117 · see citing works
Phosphorylation of FANCD2 on Two Novel Sites Is Required for Mitomycin C Resistance
Ho, G. P. H., Margossian, S. P., Taniguchi, T., & D’Andrea, A. D. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.02018-05 · Cited by 118 · see citing works
Sommers, J. A., Rawtani, N., Gupta, R., Bugreev, D. V., Mazin, A. V., Cantor, S. B., & Brosh, R. M. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m809019200 · Cited by 112 · see citing works
Gupta, R., Sharma, S., Sommers, J. A., Kenny, M. K., Cantor, S. B., & Brosh, R. M. (2007) · Blood · doi:10.1182/blood-2006-11-057273 · Cited by 113 · see citing works
Etiology of Esophageal Atresia and Tracheoesophageal Fistula: “Mind the Gap”
de Jong, E. M., Felix, J. F., de Klein, A., & Tibboel, D. (2010) · Current Gastroenterology Reports · doi:10.1007/s11894-010-0108-1 · Cited by 113 · see citing works
Kumaraswamy, E., & Shiekhattar, R. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.00961-07 · Cited by 110 · see citing works
Targeting the Fanconi Anemia/BRCA Pathway Circumvents Drug Resistance in Multiple Myeloma
Yarde, D. N., Oliveira, V. A., Mathews, L., Wang, X., Villagra, A., Boulware, D. C., Shain, K. H., Hazlehurst, L., Alsina, M., Chen, D., et al. (2009) · Cancer Research · doi:10.1158/0008-5472.can-09-2616 · Cited by 110 · see citing works
Biochemical Characterization of Warsaw Breakage Syndrome Helicase*
Wu, Y.-L., Sommers, J. A., Khan, I., de Winter, J., & Brosh, R. M. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.276022 · Cited by 110 · see citing works
Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1
Cantor, S. B., & Guillemette, S. (2011) · Future Oncology · doi:10.2217/fon.10.191 · Cited by 106 · see citing works
“Along these lines, several FANCJ mutations targeting noncoding genomic DNA have been identified in both breast cancer and FA patients [28,43].”
Identifying G-Quadruplex-DNA-Disrupting Small Molecules
Mitteaux, J., Lejault, P., Wojciechowski, F., Joubert, A., Boudon, J., Desbois, N., Gros, C. P., Hudson, R. H. E., Boulé, J.-B., Granzhan, A., et al. (2021) · Journal of the American Chemical Society · doi:10.1021/jacs.1c04426 · Cited by 107 · see citing works
Hematopoietic Dysfunction in a Mouse Model for Fanconi Anemia Group D1
Navarro, S., Meza, N. W., Bustamante, O. Q., Casado, J. A., Jacome, A., McAllister, K. A., Puerto, S., Surrallés, J., Segovia, J. C., & Bueren, J. A. (2006) · Molecular Therapy · doi:10.1016/j.ymthe.2006.05.018 · Cited by 102 · see citing works
Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome
Suhasini, A. N., Rawtani, N., Wu, Y., Sommers, J. A., Sharma, S., Mosedale, G., North, P. S., Cantor, S. B., Hickson, I. D., & Brosh, R. M. (2011) · The EMBO Journal · doi:10.1038/emboj.2010.362 · Cited by 102 · see citing works
Genetic predispositions to childhood leukemia
Stieglitz, E., & Loh, M. L. (2013) · Therapeutic Advances in Hematology · doi:10.1177/2040620713498161 · Cited by 101 · see citing works
Youds, J. L., Barber, L. J., Ward, J. D., Collis, S. J., O’Neil, N. J., Boulton, S. J., & Rose, A. M. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.01641-07 · Cited by 102 · see citing works
Welcome the Family of FANCJ-like Helicases to the Block of Genome Stability Maintenance Proteins
Wu, Y., Suhasini, A. N., & Brosh, R. M. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8580-6 · Cited by 100 · see citing works
Wong‐Brown, M. W., Nordfors, C., Mossman, D., Pecenpetelovska, G., Avery‐Kiejda, K. A., Talseth‐Palmer, B. A., Bowden, N. A., & Scott, R. J. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1443-0 · Cited by 100 · see citing works
Evidence for subcomplexes in the Fanconi anemia pathway
Medhurst, A. L., Laghmani, E. H., Steltenpool, J., Ferrer, M., Fontaine, C., de Groot, J., Rooimans, M. A., Scheper, R. J., Meetei, A. R., Wang, W., et al. (2006) · Blood · doi:10.1182/blood-2005-11-008151 · Cited by 98 · see citing works
Cheng, W.-H., Kusumoto, R., Opresko, P. L., Sui, X., Huang, S., Nicolette, M. L., Paull, T. T., Campisi, J., Seidman, M. M., & Bohr, V. A. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl362 · Cited by 97 · see citing works
Telomeres: Structures in need of unwinding
Paeschke, K., McDonald, K. R., & Zakian, V. A. (2010) · FEBS Letters · doi:10.1016/j.febslet.2010.07.007 · Cited by 98 · see citing works
Iron–sulfur cluster biosynthesis and trafficking – impact on human disease conditions
Wachnowsky, C., Fidai, I., & Cowan, J. A. (2017) · Metallomics · doi:10.1039/c7mt00180k · Cited by 96 · see citing works
How to untie G-quadruplex knots and why?
Lejault, P., Mitteaux, J., Sperti, F. R., & Monchaud, D. (2021) · Cell chemical biology · doi:10.1016/j.chembiol.2021.01.015 · Cited by 96 · see citing works
Rahman, N., & Scott, R. H. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm026 · Cited by 94 · see citing works
Sobeck, A., Stone, S., Costanzo, V., de Graaf, B., Reuter, T., de Winter, J. P., Wallisch, M., Akkari, Y. M. N., Olson, S. B., Wang, W., et al. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.26.2.425-437.2006 · Cited by 92 · see citing works
Diagnosis of Fanconi Anemia by Diepoxybutane Analysis
Auerbach, A. D. (2015) · Current Protocols in Human Genetics · doi:10.1002/0471142905.hg0807s85 · Cited by 92 · see citing works
Self-citationDe Nicolo, A., Tancredi, M., Lombardi, G., Flemma, C. C., Barbuti, S., Di Cristofano, C., Sobhian, B., Bevilacqua, G., Drapkin, R., & Caligo, M. A. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0087 · Cited by 91 · see citing works
Green, A. M., & Kupfer, G. M. (2009) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2009.01.008 · Cited by 89 · see citing works
BACH1 is a DNA repair protein supporting BRCA1 damage response
Peng, M., Litman, R., Jin, Z., Fong, G., & Cantor, S. B. (2006) · Oncogene · doi:10.1038/sj.onc.1209257 · Cited by 88 · see citing works
Breast cancer genes: beyond BRCA1 and BRCA2
Vega, A. (2013) · Frontiers in bioscience · doi:10.2741/4185 · Cited by 88 · see citing works
Nagel, Z., Chaim, I. A., & Samson, L. (2014) · DNA Repair · doi:10.1016/j.dnarep.2014.03.009 · Cited by 84 · see citing works
Leung, J. W. C., Wang, Y., Fong, K.-W., Huen, M. S. Y., Li, L., & Chen, J. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1118720109 · Cited by 85 · see citing works
Brosh, R. M., & Matson, S. W. (2020) · Genes · doi:10.3390/genes11030255 · Cited by 85 · see citing works
Mechanisms of hexameric helicases
Fernandez, A. J., & Berger, J. M. (2021) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/10409238.2021.1954597 · Cited by 74 · see citing works
Multistep mechanism of G-quadruplex resolution during DNA replication
Sato, K., Martin-Pintado, N., Post, H., Altelaar, M., & Knipscheer, P. (2021) · Science Advances · doi:10.1126/sciadv.abf8653 · Cited by 80 · see citing works
- Authors
- Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleuer, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., & Auerbach, A. D.
- Affiliations
- Rockefeller University (US)
- Memorial Sloan Kettering Cancer Center (US)
- University of Würzburg (DE)
- Heinrich Heine University Düsseldorf (DE)
- Corresponding author
- Auerbach, Arleen D
- ORCID
- Venue
- Nature Genetics
- Published
- 2005-08-21
- Volume
- 37
- Issue
- 9
- Pages
- 931-933
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2040881136
- Cited by
- 370
- References
- 12
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 10 · 2023: 14 · 2022: 9 · 2021: 15 · 2020: 8 · 2019: 12 · 2018: 9 · 2017: 9 · 2016: 14 · 2015: 16 · 2014: 19 · 2013: 14 · 2012: 21
- FWCI
- 14.68
- Type
- journal article
- Language
- en
- Update notices
- erratum (2005-11-01)
- Open access
- closed
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- BRIP1, BACH1, Fanconi anemia, FANCL, FANCD2 monoubiquitination, BRCA1, DNA helicase, DNA repair, gene mapping
- MeSH terms
- Cell Nucleus, Chromosomes, Human, Pair 17, DNA-Binding Proteins, Fanconi Anemia, Female, Humans, Male, Mutation, Nuclear Proteins, Pedigree, Blotting, Western, Cell Cycle Proteins, Microsatellite Repeats, RNA Helicases, Polymorphism, Single Nucleotide, Ubiquitin, Fanconi Anemia Complementation Group Proteins, Fanconi Anemia Complementation Group C Protein, Fanconi Anemia Complementation Group D2 Protein
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
