Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Abstract
The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.
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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 [30]
Cites
Schouten, J. P. (2002) · Nucleic Acids Research · doi:10.1093/nar/gnf056 · Cited by 2,705 · see citing works
Alu repeats and human genomic diversity
Batzer, M., & Deininger, P. (2002) · Nature reviews genetics · doi:10.1038/nrg798 · Cited by 1,522 · 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
Self-citationControl of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2
Xia, B., Sheng, Q., Nakanishi, K., Ohashi, A., Wu, J., Christ, N., Liu, X., Jasin, M., Couch, F. J., & Livingston, D. M. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.05.022 · Cited by 861 · see citing works
Self-citationThe DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
Levitus, M., Waisfisz, Q., Godthelp, B. C., Vries, Y. D., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., et al. (2005) · Nature Genetics · doi:10.1038/ng1625 · Cited by 432 · see citing works
Self-citationMolecular 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
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
Waisfisz, Q., Morgan, N. V., Savino, M., de Winter, J. P., van Berkel, C. G. M., Hoatlin, M. E., Ianzano, L., Gibson, R. A., Arwert, F., Savoia, A., et al. (1999) · Nature Genetics · doi:10.1038/11956 · Cited by 208 · see citing works
Self-citationThe infant with a vascular tumor
Mueller, B. U., & Mulliken, J. B. (1999) · Seminars in Perinatology · doi:10.1016/s0146-0005(99)80041-x · Cited by 82 · see citing works
Bermejo, J. L., & Hemminki, K. (2004) · Annals of Oncology · doi:10.1093/annonc/mdh474 · Cited by 77 · see citing works
Updated Classification of Hemangiomas and Other Vascular Anomalies
Chang, M. W. (2003) · Lymphatic Research and Biology · doi:10.1089/153968503322758067 · Cited by 76 · see citing works
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Filippo, J. S., Sung, P., & Klein, H. L. (2008) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.77.061306.125255 · Cited by 1,686 · see citing works
Homologous recombination in DNA repair and DNA damage tolerance
Li, X., & Heyer, W. (2008) · Cell Research · doi:10.1038/cr.2008.1 · Cited by 1,203 · see citing works
Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers
Sakai, W., Swisher, E. M., Karlan, B. Y., Agarwal, M. K., Higgins, J., Friedman, C., Villegas, E., Jacquemont, C., Farrugia, D. J., Couch, F. J., et al. (2008) · Nature · doi:10.1038/nature06633 · Cited by 1,086 · see citing works
Resistance to therapy caused by intragenic deletion in BRCA2
Edwards, S. L., Brough, R., Lord, C. J., Natrajan, R., Vatcheva, R., Levine, D. A., Boyd, J., Reis-Filho, J. S., & Ashworth, A. (2008) · Nature · doi:10.1038/nature06548 · Cited by 1,011 · see citing works
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
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
Maintaining genome stability at the replication fork
Branzei, D., & Foiani, M. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2852 · Cited by 786 · see citing works
Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., et al. (2010) · Nature Genetics · doi:10.1038/ng.569 · Cited by 743 · see citing works
Identification of the FANCI Protein, a Monoubiquitinated FANCD2 Paralog Required for DNA Repair
Smogorzewska, A., Matsuoka, S., Vinciguerra, P., McDonald, E. R., Hurov, K. E., Luo, J., Ballif, B. A., Gygi, S. P., Hofmann, K., D’Andrea, A. D., et al. (2007) · Cell · doi:10.1016/j.cell.2007.03.009 · Cited by 695 · 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
Self-citationThe effects of deregulated DNA damage signalling on cancer chemotherapy response and resistance
Bouwman, P., & Jonkers, J. (2012) · Nature Reviews Cancer · doi:10.1038/nrc3342 · Cited by 615 · see citing works
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Sy, S. M.-H., Huen, M. S. Y., & Chen, J. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0811159106 · Cited by 607 · 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
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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
Self-citationBRCA1 and its toolbox for the maintenance of genome integrity
Huen, M. S. Y., Sy, S. M.-H., & Chen, J. (2009) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2831 · Cited by 495 · 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
Ten Genes for Inherited Breast Cancer
Walsh, T., & King, M.-C. (2007) · Cancer Cell · doi:10.1016/j.ccr.2007.01.010 · Cited by 477 · see citing works
A recurrent mutation in PALB2 in Finnish cancer families
Erkko, H., Xia, B., Nikkilä, J., Schleutker, J., Syrjäkoski, K., Mannermaa, A., Kallioniemi, A. H., Pylkäs, K., Karppinen, S., Rapakko, K., et al. (2007) · Nature · doi:10.1038/nature05609 · Cited by 466 · see citing works
Self-citationSusceptibility 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
Mutations of the SLX4 gene in Fanconi anemia
Kim, Y., Lach, F. P., Desetty, R. D., Hanenberg, H., Auerbach, A. D., & Smogorzewska, A. (2011) · Nature Genetics · doi:10.1038/ng.750 · Cited by 372 · 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
WD40 repeat domain proteins: a novel target class?
Schapira, M., Tyers, M., Torrent, M., & Arrowsmith, C. H. (2017) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2017.179 · Cited by 335 · 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
Buisson, R., Dion‐Côté, A., Coulombe, Y., Launay, H., Cai, H., Stasiak, A. Z., Stasiak, A., Xia, B., & Masson, J. (2010) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1915 · Cited by 303 · see citing works
Self-citationPALB2 Functionally Connects the Breast Cancer Susceptibility Proteins BRCA1 and BRCA2
Zhang, F., Fan, Q., Ren, K., & Andreassen, P. R. (2009) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-09-0123 · 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
BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study
Zhen, D. B., Rabe, K. G., Gallinger, S., Syngal, S., Schwartz, A. G., Goggins, M. G., Hruban, R. H., Cote, M. L., McWilliams, R. R., Roberts, N. J., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.153 · Cited by 295 · see citing works
Molecular pathogenesis and clinical management of Fanconi anemia
Kee, Y., & D’Andrea, A. D. (2012) · Journal of Clinical Investigation · doi:10.1172/jci58321 · Cited by 284 · see citing works
Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype
Sawyer, S. L., Tian, L., Kähkönen, M., Schwartzentruber, J., Kircher, M., Majewski, J., Dyment, D. A., Innes, A. M., Boycott, K. M., Moreau, L. A., et al. (2014) · Cancer Discovery · doi:10.1158/2159-8290.cd-14-1156 · Cited by 282 · see citing works
PALB2 mutations in European familial pancreatic cancer families
Slater, E., Langer, P., Niemczyk, E., Strauch, K., Butler, J., Habbe, N., Neoptolemos, J., Greenhalf, W., & Bartsch, D. (2010) · Clinical Genetics · doi:10.1111/j.1399-0004.2010.01425.x · Cited by 278 · 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
Wang, A. T., Kim, T., Wagner, J. E., Conti, B. A., Lach, F. P., Huang, A. L., Molina, H., Sanborn, E. M., Zierhut, H. A., Cornes, B. K., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.07.009 · Cited by 269 · see citing works
Phospho-Ser/Thr-binding domains: navigating the cell cycle and DNA damage response
Reinhardt, H. C., & Yaffe, M. B. (2013) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3640 · Cited by 260 · see citing works
Contribution of Inherited Mutations in the BRCA2-Interacting Protein PALB2 to Familial Breast Cancer
Casadei, S., Norquist, B. M., Walsh, T., Stray, S. M., Mandell, J. B., Lee, M. K., Stamatoyannopoulos, J. A., & King, M. (2011) · Cancer Research · doi:10.1158/0008-5472.can-10-3958 · Cited by 242 · see citing works
Collis, S. J., Ciccia, A., Deans, A. J., Hořejšı́, Z., Martin, J. S., Maslen, S., Skehel, M. J., Elledge, S. J., West, S. C., & Boulton, S. J. (2008) · Molecular Cell · doi:10.1016/j.molcel.2008.10.014 · Cited by 210 · see citing works
Analysis of PALB2 / FANCN -associated breast cancer families
Tischkowitz, M. D., Xia, B., Sabbaghian, N., Reis-Filho, J. S., Hamel, N., Li, G., van Beers, E. H., Li, L., Khalil, T., Quenneville, L., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701724104 · Cited by 211 · see citing works
Self-citationDNA Damage and Repair: From Molecular Mechanisms to Health Implications
Fabio Altieri, F., Grillo, C., Maceroni, M., & Chichiarelli, S. (2008) · Antioxidants and Redox Signaling · doi:10.1089/ars.2007.1830 · Cited by 212 · 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
Self-citationInterplay 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
PALB2/FANCN: Recombining Cancer and Fanconi Anemia
Tischkowitz, M. D., & Xia, B. (2010) · Cancer Research · doi:10.1158/0008-5472.can-10-1012 · Cited by 196 · see citing works
Self-citationThe 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
BOD1L Is Required to Suppress Deleterious Resection of Stressed Replication Forks
Higgs, M. R., Reynolds, J. J., Winczura, A., Blackford, A. N., Borel, V., Miller, E. S., Zlatanou, A., Nieminuszczy, J., Ryan, E. L., Davies, N. J., et al. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.06.007 · Cited by 194 · 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
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Ma, J., Cai, H., Wu, T., Sobhian, B., Huo, Y., Alcivar, A. L., Mehta, M., Cheung, K. L., Ganesan, S., Kong, A. T., et al. (2012) · Molecular and Cellular Biology · doi:10.1128/mcb.06271-11 · Cited by 193 · see citing works
Self-citationTischkowitz, M. D., Sabbaghian, N., Hamel, N., Borgida, A., Rosner, C., Taherian, N., Srivastava, A., Holter, S., Rothenmund, H., Ghadirian, P., et al. (2009) · Gastroenterology · doi:10.1053/j.gastro.2009.06.055 · Cited by 187 · see citing works
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Self-citationStructural basis for recruitment of BRCA2 by PALB2
Oliver, A. W., Swift, S., Lord, C. J., Ashworth, A., & Pearl, L. H. (2009) · EMBO Reports · doi:10.1038/embor.2009.126 · Cited by 181 · see citing works
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Dray, E. V., Etchin, J., Wiese, C., Saro, D., Williams, G. J., Hammel, M., Yu, X., Galkin, V. E., Liu, D., Tsai, M.-S., et al. (2010) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.1916 · Cited by 168 · see citing works
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Ameziane, N., May, P., Haitjema, A., van de Vrugt, H. J., van Rossum-Fikkert, S. E., Ristić, D., Williams, G. J., Balk, J. A., Rockx, D., Li, H., et al. (2015) · Nature Communications · doi:10.1038/ncomms9829 · Cited by 165 · see citing works
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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-citationFoulkes, W. D., Ghadirian, P., Akbari, M. R., Hamel, N., Giroux, S., Sabbaghian, N., Darnel, A. D., Royer, R., Poll, A., Fafard, E., et al. (2007) · Breast Cancer Research · doi:10.1186/bcr1828 · Cited by 156 · see citing works
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Kenyon, J. D., & Gerson, S. L. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm1064 · Cited by 152 · see citing works
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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
Rickman, K. A., Lach, F. P., Abhyankar, A., Donovan, F. X., Sanborn, E. M., Kennedy, J. A., Sougnez, C. L., Gabriel, S., Elemento, O., Chandrasekharappa, S. C., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.06.014 · Cited by 141 · see citing works
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O’Driscoll, M. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012773 · Cited by 139 · 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-citationPark, J.-Y., Singh, T. R., Nassar, N., Zhang, F., Freund, M., Hanenberg, H., Meetei, A. R., & Andreassen, P. R. (2014) · Oncogene · doi:10.1038/onc.2013.421 · Cited by 130 · see citing works
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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
Heikkinen, T., Kärkkäinen, H., Aaltonen, K., Milne, R. L., Heikkilä, P., Aittomäki, K., BLOMQVIST, C. P., & Nevanlinna, H. A. (2009) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-3128 · Cited by 138 · 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
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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
Huo, Y., Cai, H., Teplova, I., Bowman-Colin, C., Chen, G., Price, S. M., Barnard, N., Ganesan, S., Karantza, V., White, E., et al. (2013) · Cancer Discovery · doi:10.1158/2159-8290.cd-13-0011 · Cited by 132 · see citing works
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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
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Ding, Y. C., Steele, L., Kuan, C.-J., Greilac, S., & Neuhausen, S. L. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-010-1195-2 · Cited by 125 · see citing works
Johnson, N., Fletcher, O., Palles, C., Rudd, M. F., Webb, E. L., Sellick, G. S., dos‐Santos‐Silva, I., McCormack, V., Gibson, L., Fraser, A., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm050 · Cited by 124 · see citing works
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Dorsman, J. C., Levitus, M., Rockx, D., Rooimans, M. A., Oostra, A. B., Haitjema, A., Bakker, S. T., Steltenpool, J., Schuler, D., Mohan, S., et al. (2007) · Analytical Cellular Pathology · doi:10.1155/2007/151968 · Cited by 133 · see citing works
Self-citationGodin, S. K., Sullivan, M. R., & Bernstein, K. A. (2016) · Biochemistry and Cell Biology · doi:10.1139/bcb-2016-0012 · Cited by 121 · 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
Self-citationRAD51C: a novel cancer susceptibility gene is linked to Fanconi anemia and breast cancer
Somyajit, K., Subramanya, S., & Nagaraju, G. (2010) · Carcinogenesis · doi:10.1093/carcin/bgq210 · Cited by 119 · see citing works
Lima, Z. S., Ghadamzadeh, M., Arashloo, F. T., Amjad, G., Ebadi, M. R., & Younesi, L. (2019) · Journal of Hematology & Oncology · doi:10.1186/s13045-019-0725-6 · Cited by 118 · see citing works
A novel germline PALB2 deletion in Polish breast and ovarian cancer patients
Dansonka‐Mieszkowska, A., Kluska, A., Moes-Sosnowska, J., Dąbrowska, M., Nowakowska, D., Niwińska, A., Derlatka, P., Cendrowski, K., & Kupryjańczyk, J. (2010) · BMC Medical Genetics · doi:10.1186/1471-2350-11-20 · Cited by 118 · see citing works
Links between genome integrity and BRCA1 tumor suppression
Covington, M. L., & Greenberg, R. A. (2012) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2012.06.007 · Cited by 116 · see citing works
Phosphorylated RPA recruits PALB2 to stalled DNA replication forks to facilitate fork recovery
Murphy, A., Fitzgerald, M., Ro, T., Kim, J. H., Rabinowitsch, A. I., Chowdhury, D., Schildkraut, C. L., & Borowiec, J. A. (2014) · The Journal of Cell Biology · doi:10.1083/jcb.201404111 · Cited by 112 · see citing works
The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA
Crossan, G. P., & Patel, K. J. (2011) · The Journal of Pathology · doi:10.1002/path.3002 · Cited by 111 · see citing works
BRCA2 is required for neurogenesis and suppression of medulloblastoma
Frappart, P., Lee, Y., Lamont, J. M., & McKinnon, P. J. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601703 · 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
“Similarly, inheriting bi- allelic mutations in BACH1/FANCJ/ BRIP1 or PALB2/FANCN genes results in the FA subtypes FA-J or FA-N, respectively (Figur e 1) [26–30].”
Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination
Liang, Z., Liang, F., Teng, Y., Chen, X., Liu, J., Longerich, S., Rao, T., Green, A. M., Collins, N. B., Xiong, Y., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2018.12.084 · Cited by 104 · see citing works
The Role of PALB2 in the DNA Damage Response and Cancer Predisposition
Nepomuceno, T. C., Gregoriis, G. D., de Oliveira, F. M. B., Suarez‐Kurtz, G., Monteiro, Á. N. A., & Carvalho, M. A. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18091886 · Cited by 108 · see citing works
Minding the gap: The underground functions of BRCA1 and BRCA2 at stalled replication forks
Nagaraju, G., & Scully, R. (2007) · DNA repair · doi:10.1016/j.dnarep.2007.02.020 · Cited by 103 · see citing works
6-Thioguanine Selectively Kills BRCA2-Defective Tumors and Overcomes PARP Inhibitor Resistance
Issaeva, N., Thomas, H. D., Djurenovic, T., Jaspers, J. E., Stoimenov, I., Kyle, S., Pedley, N., Gottipati, P., Zur, R., Sleeth, K. M., et al. (2010) · Cancer Research · doi:10.1158/0008-5472.can-09-3416 · Cited by 104 · see citing works
Penetrance Analysis of the PALB2 c.1592delT Founder Mutation
Erkko, H., Dowty, J. G., Nikkilä, J., Syrjäkoski, K., Mannermaa, A., Pylkäs, K., Southey, M. C., Holli, K., Kallioniemi, A. H., Jukkola‐Vuorinen, A., et al. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-08-0210 · Cited by 102 · see citing works
Self-citationThe Tumor Suppressor PALB2: Inside Out
Ducy, M., Sesma-Sanz, L., Guitton-Sert, L., Lashgari, A., Gao, Y., Brahiti, N., Rodrigue, A., Margaillan, G., Caron, M., Côté, J., et al. (2019) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2018.10.008 · Cited by 101 · see citing works
García, M. J., Fernández, V., Osório, A., Barroso, A., Llort, G., Lázaro, C., Blanco, I., Caldés, T., de la Hoya, M., y Cajal, T. R., et al. (2008) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-9945-0 · Cited by 102 · see citing works
PALB2 Regulates Recombinational Repair through Chromatin Association and Oligomerization
Sy, S. M.-H., Huen, M. S. Y., Zhu, Y., & Chen, J. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.016717 · Cited by 98 · 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
Nacson, J., Krais, J. J., Bernhardy, A. J., Clausen, E., Feng, W., Wang, Y., Nicolas, É., Cai, K. Q., Tricarico, R., Hua, X., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.08.086 · Cited by 98 · see citing works
Potapova, A., Hoffman, A. M., Godwin, A. K., Al‐Saleem, T., & Cairns, P. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-2418 · 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
Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management
Wu, S., Zhou, J., Zhang, K., Chen, H., Luo, M., Lu, Y., Sun, Y., & Chen, Y. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.00301 · Cited by 93 · see citing works
De 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
FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3
Wilson, J. B., Yamamoto, K., Marriott, A. S., Hussain, S., Sung, P., Hoatlin, M. E., Mathew, C. G., Takata, M., Thompson, L., Kupfer, G. M., et al. (2008) · Oncogene · doi:10.1038/sj.onc.1211034 · Cited by 91 · see citing works
Targeting the DNA damage response for cancer therapy
Powell, S. N., & Bindra, R. S. (2009) · DNA repair · doi:10.1016/j.dnarep.2009.04.011 · Cited by 86 · see citing works
- Authors
- Xia, B., Dorsman, J. C., Ameziane, N., de Vries, Y., Rooimans, M. A., Sheng, Q., Pals, G., Errami, A., Gluckman, E., Llera, J., Wang, W., Livingston, D. M., Joenje, H., & de Winter, J. P.
- Affiliations
- Harvard University (US)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- MRC Holland (Netherlands) (NL)
- National Institutes of Health (US)
- Corresponding author
- Livingston, David M
- ORCID
- Venue
- Nature Genetics
- Published
- 2006-12-31
- Volume
- 39
- Issue
- 2
- Pages
- 159-161
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2071782656
- Cited by
- 465
- References
- 11
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 14 · 2023: 20 · 2022: 16 · 2021: 13 · 2020: 14 · 2019: 18 · 2018: 17 · 2017: 21 · 2016: 11 · 2015: 20 · 2014: 32 · 2013: 38 · 2012: 25
- FWCI
- 16.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Keywords
- Fanconi anemia, PALB2, BRCA2, DNA repair, spontaneous reversion, ectopic expression
- MeSH terms
- Fanconi Anemia Complementation Group N Protein, Breast Neoplasms, Fanconi Anemia, Humans, Mutation, Nuclear Proteins, Genetic Predisposition to Disease, BRCA2 Protein, Tumor Suppressor Proteins, Fanconi Anemia Complementation Group Proteins
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