Mutation of the RAD51C gene in a Fanconi anemia–like disorder
Abstract
Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers. We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in homologous recombination-mediated DNA repair. The mutation results in loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin. Thus, biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome.
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?
RAD51C mutations occur in breast cancer and in a consanguineous family with severe congenital abnormalities characteristic of Fanconi anemia.
“Conceivably, RAD51C will also join the BRCA-FA family given that mutations were found not only in breast cancer [21], but also in a consanguineous family with severe congenital abnormalities characteristic of FA [31].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [31]
Cites
GROMACS: A message-passing parallel molecular dynamics implementation
Berendsen, H. J. C., van der Spoel, D., & van Drunen, R. (1995) · Computer Physics Communications · doi:10.1016/0010-4655(95)00042-e · Cited by 10,748 · see citing works
Comparative Protein Structure Modeling of Genes and Genomes
Martí-Renom, M. A., Stuart, A. C., Fiser, A., Sánchez, R., Melo, F., & Šali, A. (2000) · Annual Review of Biophysics and Biomolecular Structure · doi:10.1146/annurev.biophys.29.1.291 · Cited by 3,169 · 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
Self-citationBiallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1947 · Cited by 642 · see citing works
Self-citationHow 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
Hanenberg, H., Xiao, X. L., Dilloo, D., Hashino, K., Kato, I., & Williams, D. A. (1996) · Nature Medicine · doi:10.1038/nm0896-876 · Cited by 543 · see citing works
Self-citationTakata, M., Sasaki, M. S., Tachiiri, S., Fukushima, T., Sonoda, E., Schild, D., Thompson, L. H., & Takeda, S. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.8.2858-2866.2001 · Cited by 523 · see citing works
International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity
Auerbach, A., Rogatko, A., & Schroeder-Kurth, T. (1989) · Blood · doi:10.1182/blood.v73.2.391.391 · Cited by 338 · 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
Full‐length archaeal Rad51 structure and mutants: mechanisms for RAD51 assembly and control by BRCA2
Shin, D. S., Pellegrini, L., Daniels, D. S., Yelent, B., Craig, L., Bates, D. L., Yu, D. S., Shivji, M. K. K., Hitomi, C., Arvai, A. S., et al. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg429 · Cited by 270 · see citing works
Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder
Waltes, R., Kalb, R., Gatei, M. H., Kijas, A. W., Stümm, M., Sobeck, A., Wieland, B., Varon, R., Lerenthal, Y., Lavin, M. F., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.04.010 · Cited by 263 · see citing works
Self-citationCharacterization of ATM gene mutations in 66 ataxia telangiectasia families
Sandoval, N. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.69 · Cited by 226 · see citing works
Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry
Rosenberg, P. S., Alter, B. P., & Ebell, W. (2008) · Haematologica · doi:10.3324/haematol.12234 · Cited by 214 · see citing works
Optimization of Fibronectin-Assisted Retroviral Gene Transfer into Human CD34 + Hematopoietic Cells
Hanenberg, H., Hashino, K., Konishi, H., Hock, R. A., Kato, I., & Williams, D. A. (1997) · Human Gene Therapy · doi:10.1089/hum.1997.8.18-2193 · Cited by 196 · see citing works
Self-citationInteractive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families
Carr, I., Flintoff, K., Taylor, G. R., Markham, A. F., & Bonthron, D. T. (2006) · Human Mutation · doi:10.1002/humu.20383 · Cited by 150 · see citing works
Godthelp, B. C. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.10.2172 · Cited by 143 · see citing works
A Severe Form of Human Combined Immunodeficiency Due to Mutations in DNA Ligase IV
Enders, A., Fisch, P., Schwarz, K., Duffner, U. A., Pannicke, U., Nikolopoulos, E., Peters, A. M. J., Orlowska‐Volk, M., Schindler, D., Friedrich, W., et al. (2006) · The Journal of Immunology · doi:10.4049/jimmunol.176.8.5060 · Cited by 142 · see citing works
Self-citationKalb, 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-citationKuznetsov, S. G., Pellegrini, M., Shuda, K., Fernández-Capetillo, Ó., Liu, Y., Martin, B. K., Burkett, S. S., Southon, E. A., Pati, D., Tessarollo, L., et al. (2007) · The Journal of Cell Biology · doi:10.1083/jcb.200608130 · 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
Eme1 is involved in DNA damage processing and maintenance of genomic stability in mammalian cells
Abraham, J., Lemmers, B., Hande, M. P., Moynahan, M. E., Chahwan, C., Ciccia, A., Essers, J., Hanada, K., Chahwan, R., Khaw, A. K., et al. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg580 · Cited by 134 · see citing works
Homology-extended sequence alignment
Simossis, V. A. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki233 · Cited by 116 · see citing works
Role of RAD51C and XRCC3 in Genetic Recombination and DNA Repair
Liu, Y., Tarsounas, M., O’Regan, P., & West, S. C. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m609066200 · Cited by 112 · see citing works
Role of Mammalian RAD51L2 (RAD51C) in Recombination and Genetic Stability
French, C. A., Masson, J., Griffin, C. S., O’Regan, P., West, S. C., & Thacker, J. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m201402200 · Cited by 100 · see citing works
Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool
Hanenberg, H., Batish, S. D., Pollok, K. E., Vieten, L., Verlander, P. C., Leurs, C., Cooper, R. J., Göttsche, K., Haneline, L. S., Clapp, D. W., et al. (2002) · Experimental Hematology · doi:10.1016/s0301-472x(02)00782-8 · Cited by 96 · see citing works
Self-citationLoss of Rad51c Leads to Embryonic Lethality and Modulation of Trp53 -Dependent Tumorigenesis in Mice
Kuznetsov, S. G., Haines, D. C., Martin, B. K., & Sharan, S. K. (2009) · Cancer Research · doi:10.1158/0008-5472.can-08-3057 · Cited by 94 · see citing works
RAD51C facilitates checkpoint signaling by promoting CHK2 phosphorylation
Badie, S., Liao, C., Thanasoula, M., Barber, P. R., Hill, M. A., & Tarsounas, M. (2009) · The Journal of Cell Biology · doi:10.1083/jcb.200811079 · Cited by 86 · see citing works
Molecular mechanics modeling of organic backbone of metal-free and coordinated ligands
Bol, J. E., Buning, C., Comba, P., Reedijk, J., & Str�hle, M. (1998) · Journal of Computational Chemistry · doi:10.1002/(sici)1096-987x(19980415)19:5 · Cited by 80 · see citing works
Casado, J. A., Callén, E., Jacome, A., Rı́o, P., Castellà, M., Lobitz, S., Ferró, T., Muñoz, A., Sevilla, J., Cantalejo, A., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.044719 · Cited by 53 · see citing works
Self-citationSingh, S., van Hauten, P. M. M., Jones, K., Grimmett, K., Mills, A. K., & Gandhi, M. K. (2009) · Blood · doi:10.1182/blood-2009-05-221267 · Cited by 21 · see citing works
Livingston, D. M. (2009) · Science · doi:10.1126/science.1174839 · Cited by 16 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
DNA interstrand crosslink repair and cancer
Deans, A. J., & West, S. C. (2011) · Nature reviews. Cancer · doi:10.1038/nrc3088 · Cited by 1,019 · 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
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
Self-citationRAD51B in Familial Breast Cancer
Pelttari, L. M., Khan, S., Vuorela, M., Kiiski, J. I., Vilske, S., Nevanlinna, V., Ranta, S., Schleutker, J., Winqvist, R., Kallioniemi, A. H., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0153788 · Cited by 669 · see citing works
Homologous recombination and its regulation
Krejčí, L., Altmannová, V., Spirek, M., & Zhao, X. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks270 · Cited by 642 · 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
Germline mutations in RAD51D confer susceptibility to ovarian cancer
Loveday, C., Turnbull, C., Ramsay, E., Hughes, D., Ruark, E., Frankum, J. R., Bowden, G. R., Kalmyrzaev, B., Warren-Perry, M., Snape, K. M. G., et al. (2011) · Nature Genetics · doi:10.1038/ng.893 · Cited by 530 · see citing works
Self-citationGenetics of breast cancer: a topic in evolution
Shiovitz, S., & Korde, L. A. (2015) · Annals of Oncology · doi:10.1093/annonc/mdv022 · Cited by 536 · see citing works
Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathwayPreprint
Kim, H., & D’Andrea, A. D. (2012) · Genes & Development · doi:10.1101/gad.195248.112 · Cited by 510 · see citing works
Lipkowitz, S., & Weissman, A. M. (2011) · Nature reviews. Cancer · doi:10.1038/nrc3120 · Cited by 415 · 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
The Fanconi Anemia Pathway in Cancer
Joshi, N., Färkkilä, A., & D’Andrea, A. D. (2018) · Annual Review of Cancer Biology · doi:10.1146/annurev-cancerbio-030617-050422 · Cited by 373 · 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
Self-citationThompson, L. H. (2012) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2012.06.002 · Cited by 357 · see citing works
Hereditary Breast Cancer: The Era of New Susceptibility Genes
Apostolou, P., & Fostira, F. (2013) · BioMed Research International · doi:10.1155/2013/747318 · Cited by 353 · 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
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype
Stoepker, C., Hain, K. O., Schuster, B., Hilhorst‐Hofstee, Y., Rooimans, M. A., Steltenpool, J., Oostra, A. B., Eirich, K., Korthof, E. T., Nieuwint, A. W. M., et al. (2011) · Nature Genetics · doi:10.1038/ng.751 · Cited by 299 · see citing works
Self-citationMolecular 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
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
RAD51 paralogs: roles in DNA damage signalling, recombinational repair and tumorigenesis.
Suwaki, N., Klare, K., & Tarsounas, M. (2011) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2011.07.019 · Cited by 294 · see citing works
Advances in Understanding the Complex Mechanisms of DNA Interstrand Cross-Link RepairPreprint
Clauson, C. L., Schärer, O. D., & Niedernhofer, L. J. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012732 · Cited by 245 · 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
Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia
Knies, K., Inano, S., Ramı́rez, M. J., Ishiai, M., Surrallés, J., Takata, M., & Schindler, D. (2017) · Journal of Clinical Investigation · doi:10.1172/jci92069 · Cited by 205 · see citing works
Self-citationPALB2/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
Fanconi anemia: a model disease for studies on human genetics and advanced therapeutics
Bogliolo, M., & Surrallés, J. (2015) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2015.07.002 · Cited by 184 · see citing works
RI-1: a chemical inhibitor of RAD51 that disrupts homologous recombination in human cells
Budke, B., Logan, H. L., Kalin, J. H., Zelivianskaia, A. S., McGuire, W. C., Miller, L. L., Stark, J. M., Kozikowski, A. P., Bishop, D. K., & Connell, P. P. (2012) · Nucleic Acids Research · doi:10.1093/nar/gks353 · Cited by 186 · see citing works
Inherited bone marrow failure syndromes
Dokal, I. S., & Vulliamy, T. (2010) · Haematologica · doi:10.3324/haematol.2010.025619 · Cited by 173 · see citing works
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51
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
Rad51 Paralogs Remodel Pre-synaptic Rad51 Filaments to Stimulate Homologous Recombination
Taylor, M. R. G., Špı́rek, M., Chaurasiya, K. R., Ward, J. D., Carzaniga, R., Yu, X., Egelman, E. H., Collinson, L., Rueda, D., Krejčí, L., et al. (2015) · Cell · doi:10.1016/j.cell.2015.06.015 · Cited by 154 · see citing works
Hereditary ovarian cancer: Beyond the usual suspects
Pennington, K. P., & Swisher, E. M. (2012) · Gynecologic Oncology · doi:10.1016/j.ygyno.2011.12.415 · Cited by 153 · see citing works
Mamrak, N. E., Shimamura, A., & Howlett, N. G. (2016) · Blood Reviews · doi:10.1016/j.blre.2016.10.002 · Cited by 155 · see citing works
RAD-ical New Insights into RAD51 Regulation
Sullivan, M. R., & Bernstein, K. A. (2018) · Genes · doi:10.3390/genes9120629 · Cited by 144 · see citing works
Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact
Castellà, M., Pujol, R. M., Callén, E., Ramı́rez, M. J., Casado, J. A., Talavera, M., Ferró, T., Muñoz, A. D. A., Sevilla, J., Madero, L., et al. (2011) · Journal of Medical Genetics · doi:10.1136/jmg.2010.084210 · Cited by 143 · see citing works
RAD51C-Deficient Cancer Cells Are Highly Sensitive to the PARP Inhibitor Olaparib
Min, A., Im, S., Yoon, Y., Song, S., Nam, H.-J., Hur, H.-S., Kim, H., Lee, K.-H., Han, S., Oh, D., et al. (2013) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-12-0950 · Cited by 143 · see citing works
Mechanisms of interstrand DNA crosslink repair and human disorders
Hashimoto, S., Anai, H., & Hanada, K. (2016) · Genes and Environment · doi:10.1186/s41021-016-0037-9 · Cited by 140 · see citing works
Diseases Associated with Defective Responses to DNA DamagePreprint
O’Driscoll, M. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a012773 · Cited by 139 · see citing works
Park, 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
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
Pathways for repairing and tolerating the spectrum of oxidative DNA lesions
Berquist, B. R., & Wilson, D. M. (2012) · Cancer Letters · doi:10.1016/j.canlet.2012.02.001 · Cited by 136 · 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
van Riet, J., van de Werken, H. J. G., Cuppen, E. P. J. G., Eskens, F. A. L. M., Tesselaar, M. E. T., van Veenendaal, L. M., Klümpen, H., Dercksen, M. W., Valk, G. D., Lolkema, M. P., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-24812-3 · Cited by 133 · see citing works
Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart
Somyajit, K., Saxena, S., Babu, S., Mishra, A., & Nagaraju, G. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv880 · Cited by 125 · see citing works
Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis
Oostra, A. B., Nieuwint, A. W. M., Joenje, H., & de Winter, J. P. (2012) · Anemia · doi:10.1155/2012/238731 · Cited by 126 · see citing works
Evidence of mitochondrial dysfunction and impaired ROS detoxifying machinery in Fanconi Anemia cells
Kumari, U., Jun, W. Y., Bay, B., & Lyakhovich, A. (2013) · Oncogene · doi:10.1038/onc.2012.583 · Cited by 123 · see citing works
Godin, 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
RAD51C: 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
Rajesh, C., Baker, D. K., Pierce, A. J., & Pittman, D. L. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq738 · Cited by 118 · see citing works
Vinciguerra, P., Godinho, S. A., Parmar, K., Pellman, D. S., & D’Andrea, A. D. (2010) · Journal of Clinical Investigation · doi:10.1172/jci43391 · Cited by 115 · see citing works
Targeting homologous recombination repair defects in cancer
Evers, B., Helleday, T., & Jonkers, J. (2010) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2010.06.001 · Cited by 113 · 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
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
“Conceivably, RAD51C will also join the BRCA-FA family given that mutations were found not only in breast cancer [21], but also in a consanguineous family with severe congenital abnormalities characteristic of FA [31].”
Sequential role of RAD51 paralog complexes in replication fork remodeling and restart
Berti, M., Teloni, F., Mijic, S., Ursich, S., Fuchs, J., Palumbieri, M. D., Krietsch, J., Schmid, J. A., Garcin, E. B., Gon, S., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17324-z · Cited by 104 · see citing works
FIGNL1-containing protein complex is required for efficient homologous recombination repair
Yuan, J.-S., & Chen, J. (2013) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.1220662110 · Cited by 99 · see citing works
HELQ promotes RAD51 paralogue-dependent repair to avert germ cell loss and tumorigenesis
Adelman, C. A., Lolo, R. L., Birkbak, N. J., Murina, O., MATSUZAKI, K., Hořejšı́, Z., Parmar, K., Borel, V., Skehel, M. J., Stamp, G., et al. (2013) · Nature · doi:10.1038/nature12565 · Cited by 102 · 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
DNA crosslinking damage and cancer - a tale of friend and foe.
Huang, Y., & Li, L. (2013) · PubMed · doi:10.3978/j.issn.2218-676x.2013.03.01 · Cited by 96 · see citing works
Osório, A., Endt, D., Fernández, F., Eirich, K., de la Hoya, M., Schmutzler, R. K., Caldés, T., Meindl, A., Schindler, D., & Benitez, J. J. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds115 · Cited by 94 · see citing works
Self-citationDiagnosis 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
Fanconi anemia: a disorder defective in the DNA damage response
Kitao, H., & Takata, M. (2011) · International Journal of Hematology · doi:10.1007/s12185-011-0777-z · Cited by 86 · see citing works
Bhattacharjee, S., & Nandi, S. (2017) · Cell Communication and Signaling · doi:10.1186/s12964-017-0195-9 · Cited by 89 · 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
Inherited bone marrow failure in the pediatric patient
Dokal, I. S., Tummala, H., & Vulliamy, T. (2022) · Blood · doi:10.1182/blood.2020006481 · Cited by 87 · see citing works
Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis
Seif, A. E. (2011) · Cancer Genetics · doi:10.1016/j.cancergen.2011.04.005 · Cited by 85 · 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
Structure and function of the RAD51B–RAD51C–RAD51D–XRCC2 tumour suppressor
Greenhough, L. A., Liang, C., Beláň, O., Kunzelmann, S., Maslen, S., Rodrigo-Brenni, M. C., Anand, R., Skehel, M. J., Boulton, S. J., & West, S. C. (2023) · Nature · doi:10.1038/s41586-023-06179-1 · Cited by 85 · see citing works
Stress and DNA repair biology of the Fanconi anemia pathway
Longerich, S., Li, J., Xiong, Y., Sung, P., & Kupfer, G. M. (2014) · Blood · doi:10.1182/blood-2014-04-526293 · Cited by 84 · see citing works
Distinct Roles of FANCO/RAD51C Protein in DNA Damage Signaling and Repair
Somyajit, K., Subramanya, S., & Nagaraju, G. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.311241 · Cited by 85 · see citing works
Ali, A. M., Pradhan, A., Singh, T. R., Du, C.-H., Li, J., Wahengbam, K., Grassman, E., Auerbach, A. D., Pang, Q., & Meetei, A. R. (2012) · Blood · doi:10.1182/blood-2011-10-385963 · Cited by 85 · see citing works
FANCM and FAAP24 Maintain Genome Stability via Cooperative as Well as Unique Functions
Wang, Y., Leung, J. W. C., Jiang, Y., Lowery, M. G., Do, H., Vásquez, K. M., Chen, J., Wang, W., & Li, L. (2013) · Molecular Cell · doi:10.1016/j.molcel.2012.12.010 · Cited by 83 · see citing works
Park, J.-Y., Virts, E. L., Jankowska, A. M., Wiek, C., Othman, M. A., Chakraborty, S., Vance, G. H., Alkuraya, F. S., Hanenberg, H., & Andreassen, P. R. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103847 · Cited by 83 · see citing works
Self-citationSchneider, M., Chandler, K., Tischkowitz, M. D., & Meyer, S. (2014) · Clinical Genetics · doi:10.1111/cge.12517 · Cited by 83 · see citing works
Regulation and pharmacological targeting of RAD51 in cancer
Grundy, M. K., Buckanovich, R. J., & Bernstein, K. A. (2020) · NAR Cancer · doi:10.1093/narcan/zcaa024 · Cited by 81 · see citing works
The E3 ubiquitin ligase RAD18 regulates ubiquitylation and chromatin loading of FANCD2 and FANCI
Williams, S. A., Longerich, S., Sung, P., Vaziri, C., & Kupfer, G. M. (2011) · Blood · doi:10.1182/blood-2010-10-311761 · Cited by 81 · see citing works
Maintenance of genome stability by Fanconi anemia proteins
Palovcak, A., Liu, W., Yuan, F., & Zhang, Y. (2017) · Cell & Bioscience · doi:10.1186/s13578-016-0134-2 · Cited by 81 · see citing works
Fatemifar, G., Hoggart, C. J., Paternoster, L., Kemp, J. P., Prokopenko, I., Horikoshi, M., Wright, V. J., Tobias, J. H., Richmond, S., Zhurov, A. I., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt231 · Cited by 79 · see citing works
Cobain, E. F., Milliron, K. J., & Merajver, S. D. (2016) · Seminars in Oncology · doi:10.1053/j.seminoncol.2016.10.001 · Cited by 80 · see citing works
Thompson, E. R., Boyle, S. E., Johnson, J., Ryland, G. L., Sawyer, S. D., Choong, D. Y. H., kConFab, Chenevix‐Trench, G., Trainer, A. H., Lindeman, G. J., et al. (2011) · Human Mutation · doi:10.1002/humu.21625 · Cited by 78 · see citing works
Germline mutation in the RAD51B gene confers predisposition to breast cancer
Golmard, L., Caux-Moncoutier, V., Davy, G., Ageeli, E. A., Poirot, B., Tirapo, C., Michaux, D., Barbaroux, C., d'Enghien, C. D., Nicolas, A., et al. (2013) · BMC Cancer · doi:10.1186/1471-2407-13-484 · Cited by 88 · see citing works
Takata, K., Reh, S., Tomida, J., Person, M. D., & Wood, R. D. (2013) · Nature Communications · doi:10.1038/ncomms3338 · Cited by 78 · see citing works
PALB2: The hub of a network of tumor suppressors involved in DNA damage responses
Park, J., Zhang, F., & Andreassen, P. R. (2014) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2014.06.003 · Cited by 78 · see citing works
FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2
Castellà, M., Jacquemont, C. F., Thompson, E. L., Yeo, J. E., Cheung, R. S., Huang, J., Sobeck, A., Hendrickson, E. A., & Taniguchi, T. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005563 · Cited by 77 · see citing works
Differential Requirements for the RAD51 Paralogs in Genome Repair and Maintenance in Human Cells
Garcin, E. B., Gon, S., Prakash, R., Sullivan, M. R., Brunette, G. J., Cian, A. D., Concordet, J.-P., Giovannangeli, C., Dirks, W. G., Eberth, S., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008355 · Cited by 77 · see citing works
Fang, C.-B., Wu, H.-T., Zhang, M., Liu, J., & Zhang, G. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00160 · Cited by 75 · see citing works
Inherited Mutations in Breast Cancer Genes—Risk and Response
Shuen, A. Y., & Foulkes, W. D. (2011) · Journal of Mammary Gland Biology and Neoplasia · doi:10.1007/s10911-011-9213-5 · Cited by 71 · see citing works
RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families
Clague, J., Wilhoite, G., Adamson, A. W., Bailis, A. M., Weitzel, J. N., & Neuhausen, S. L. (2011) · PLoS ONE · doi:10.1371/journal.pone.0025632 · Cited by 71 · see citing works
Biswas, K., Das, R., Alter, B. P., Kuznetsov, S. G., Stauffer, S., North, S. L., Burkett, S. S., Brody, L. C., Meyer, S., Byrd, R. A., et al. (2011) · Blood · doi:10.1182/blood-2010-12-324541 · Cited by 70 · see citing works
Fanconi anemia signaling network regulates the spindle assembly checkpoint
Nalepa, G., Enzor, R., Sun, Z., Marchal, C. C., Park, S.-J., Yang, Y., Tedeschi, L., Kelich, S. L., Hanenberg, H., & Clapp, D. W. (2013) · Journal of Clinical Investigation · doi:10.1172/jci67364 · Cited by 70 · see citing works
Self-citationVirts, E. L., Jankowska, A. M., MacKay, C., Glaas, M. F., Wiek, C., Kelich, S. L., Lottmann, N., Kennedy, F. M., Marchal, C. C., Lehnert, E., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv227 · Cited by 69 · see citing works
Self-citationUSP1 deubiquitinase maintains phosphorylated CHK1 by limiting its DDB1-dependent degradation
Guervilly, J.-H., Renaud, E., Takata, M., & Rosselli, F. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr103 · Cited by 71 · see citing works
Sharma, S., Helchowski, C. M., & Canman, C. E. (2012) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2012.11.002 · Cited by 67 · see citing works
Cell cycle control in acute myeloid leukemia.
Schnerch, D., Yalcintepe, J., Schmidts, A., Becker, H., Follo, M., Engelhardt, M. M., & Wäsch, R. (2012) · Europe PMC (PubMed Central) · Cited by 67 · see citing works
Somyajit, K., Basavaraju, S., Scully, R., & Nagaraju, G. (2013) · Molecular and Cellular Biology · doi:10.1128/mcb.01521-12 · Cited by 66 · see citing works
The structure of the FANCM–MHF complex reveals physical features for functional assembly
Tao, Y., Jin, C., Li, X., Qi, S., Chu, L., Niu, L., Yao, X., & Teng, M. (2012) · Nature Communications · doi:10.1038/ncomms1779 · Cited by 66 · see citing works
Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia
Savage, S. A., & Walsh, M. F. (2018) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2018.04.002 · Cited by 66 · see citing works
The Fanconi anemia pathway: Repairing the link between DNA damage and squamous cell carcinoma
Romick‐Rosendale, L. E., Lui, V. W. Y., Grandis, J. R., & Wells, S. I. (2013) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2013.01.001 · Cited by 65 · see citing works
Sato, K., Ishiai, M., Toda, K., Furukoshi, S., Osakabe, A., Tachiwana, H., Takizawa, Y., Kagawa, W., Kitao, H., Dohmae, N., et al. (2012) · The EMBO Journal · doi:10.1038/emboj.2012.197 · Cited by 65 · see citing works
Learning from a paradox: recent insights into Fanconi anaemia through studying mouse models
Bakker, S. T., de Winter, J. P., & Riele, H. T. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.009795 · Cited by 64 · see citing works
Fanconi anemia and breast cancer susceptibility meet again
Levy‐Lahad, E. (2010) · Nature Genetics · doi:10.1038/ng0510-368 · Cited by 63 · see citing works
- Authors
- Vaz, F., Hanenberg, H., Schuster, B., Barker, K., Wiek, C., Erven, V., Neveling, K., Endt, D., Kesterton, I., Autore, F., Fraternali, F., Freund, M., Hartmann, L., Grimwade, D., Roberts, R. G., Schaal, H., Mohammed, S., Rahman, N., Schindler, D., & Mathew, C. G.
- Affiliations
- Guy's Hospital (GB)
- Riley Hospital for Children (US)
- University of Würzburg (DE)
- Institute of Cancer Research (GB)
- Heinrich Heine University Düsseldorf (DE)
- National Health Service (GB)
- Corresponding author
- Hanenberg, Helmut
- Schindler, Detlev
- Mathew, Christopher G
- ORCID
- Venue
- Nature Genetics
- Published
- 2010-04-18
- Volume
- 42
- Issue
- 5
- Pages
- 406-409
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2151206132
- Cited by
- 408
- References
- 31
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 12 · 2023: 11 · 2022: 17 · 2021: 9 · 2020: 22 · 2019: 11 · 2018: 17 · 2017: 18 · 2016: 38 · 2015: 30 · 2014: 31 · 2013: 45 · 2012: 50
- FWCI
- 23.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- Funders
- Cancer Research UK
- 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 › Genomics and Rare Diseases
- Keywords
- RAD51C, Fanconi anemia, germline mutations, missense mutations, homologous recombination, DNA repair, interstrand cross-linking, mitomycin C sensitivity, camptothecin sensitivity, consanguinity, congenital malformations, chromosomal instability, topoisomerase I inhibitor
- MeSH terms
- Child, Consanguinity, DNA Damage, DNA Repair, DNA-Binding Proteins, Family Health, Fanconi Anemia, Female, Homozygote, Humans, Infant, Infant, Newborn, Male, Mutation, Pedigree, Recombination, Genetic, Germ-Line Mutation, Mutation, Missense
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