Breast Cancer–Associated Abraxas Mutation Disrupts Nuclear Localization and DNA Damage Response Functions
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A germline mutation in the Abraxas gene impairs BRCA1 DNA damage response function and is associated with familial breast cancer.
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A germline Abraxas R361Q mutation in familiar breast cancer patients disrupts nuclear localization of Abraxas.
“A germline mutation of Abraxas (R361Q) in familiar breast cancer patients in this region was previously reported to disrupt nuclear localization of Abraxas (Solyom et al., 2012).”
From The BRCA1-Interacting Protein Abraxas Is Required for Genomic Stability and Tumor Suppression (2014) · cites this paper as Solyom et al., 2012
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Cites
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319 · see citing works
Cancer Susceptibility and the Functions of BRCA1 and BRCA2
Venkitaraman, A. R. (2002) · Cell · doi:10.1016/s0092-8674(02)00615-3 · Cited by 1,713 · see citing works
The BRCT Domain Is a Phospho-Protein Binding Domain
Yu, X., Chini, C. C. S., He, M., Mer, G., & Chen, J. (2003) · Science · doi:10.1126/science.1088753 · Cited by 862 · 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
ATM-Dependent Chromatin Changes Silence Transcription In cis to DNA Double-Strand Breaks
Shanbhag, N. M., Rafalska-Metcalf, I. U., Balane-Bolivar, C., Janicki, S. M., & Greenberg, R. A. (2010) · Cell · doi:10.1016/j.cell.2010.04.038 · Cited by 737 · see citing works
Self-citationAbraxas and RAP80 Form a BRCA1 Protein Complex Required for the DNA Damage Response
Wang, B., Matsuoka, S., Ballif, B. A., Zhang, D., Smogorzewska, A., Gygi, S. P., & Elledge, S. J. (2007) · Science · doi:10.1126/science.1139476 · Cited by 695 · see citing works
Cantor, 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
RAP80 Targets BRCA1 to Specific Ubiquitin Structures at DNA Damage Sites
Sobhian, B., Shao, G., Lilli, D. R., Culhane, A. C., Moreau, L. A., Xia, B., Livingston, D. M., & Greenberg, R. A. (2007) · Science · doi:10.1126/science.1139516 · Cited by 672 · see citing works
Self-citationBRCT Repeats As Phosphopeptide-Binding Modules Involved in Protein Targeting
Manke, I. A., Lowery, D. M., Nguyen, A., & Yaffe, M. B. (2003) · Science · doi:10.1126/science.1088877 · Cited by 651 · see citing works
Anglian Breast Cancer Study Group (2000) · British Journal of Cancer · doi:10.1054/bjoc.2000.1407 · Cited by 602 · see citing works
Trends in Incidence Rates of Invasive Lobular and Ductal Breast Carcinoma
Li, C. I., Anderson, B. O., Daling, J. R., & Moe, R. E. (2003) · JAMA · doi:10.1001/jama.289.11.1421 · Cited by 579 · see citing works
Ubiquitin-Binding Protein RAP80 Mediates BRCA1-Dependent DNA Damage Response
Kim, H., Chen, J., & Yu, X. (2007) · Science · doi:10.1126/science.1139621 · Cited by 540 · 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-citationGenetic susceptibility to breast cancer
Mavaddat, N., Antoniou, A. C., Easton, D. F., & García‐Closas, M. (2010) · Molecular Oncology · doi:10.1016/j.molonc.2010.04.011 · Cited by 376 · see citing works
EMBRACE, Antoniou, A. C., Collaborators, G. S., HEBON, kConFab, SWE-BRCA, SQUAD, M., GENICA, Wang, X., Fredericksen, Z. S., et al. (2010) · Nature Genetics · doi:10.1038/ng.669 · Cited by 333 · see citing works
McKay, J., Truong, T., Gaborieau, V., Chabrier, A., Chuang, S.-C., Byrnes, G. B., Zaridze, D. G., Shangina, O., Szeszenia‐Dąbrowska, N., Lissowska, J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001333 · Cited by 314 · see citing works
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma
Capasso, M., Devoto, M., Hou, C., Asgharzadeh, S., Glessner, J., Attiyeh, E. F., Mossé, Y. P., Kim, C., Diskin, S. J., Cole, K. A., et al. (2009) · Nature Genetics · doi:10.1038/ng.374 · Cited by 304 · see citing works
Common variants at 19p13 are associated with susceptibility to ovarian cancer
the Australian Ovarian Cancer Study Group, Bolton, K. L., Cancer), T. A. C. S. (., Tyrer, J. P., Song, H., Ramus, S. J., Notaridou, M., Jones, C., Sher, T., Gentry‐Maharaj, A., et al. (2010) · Nature Genetics · doi:10.1038/ng.666 · Cited by 246 · 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
Hu, Y., Scully, R., Sobhian, B., Xie, A., Shestakova, E. A., & Livingston, D. M. (2011) · Genes & Development · doi:10.1101/gad.2011011 · Cited by 232 · see citing works
The BRCA1-RAP80 Complex Regulates DNA Repair Mechanism Utilization by Restricting End Resection
Coleman, K. A., & Greenberg, R. A. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.213728 · Cited by 224 · see citing works
Self-citationCCDC98 is a BRCA1-BRCT domain-binding protein involved in the DNA damage response
Kim, H., Huang, J., & Chen, J. (2007) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1277 · Cited by 212 · see citing works
Wang, B., Hurov, K., Hofmann, K., & Elledge, S. J. (2009) · Genes & Development · doi:10.1101/gad.1770309 · Cited by 172 · see citing works
MERIT40 facilitates BRCA1 localization and DNA damage repairPreprint
Feng, L., Huang, J., & Chen, J. (2009) · Genes & Development · doi:10.1101/gad.1770609 · Cited by 163 · see citing works
MERIT40 controls BRCA1–Rap80 complex integrity and recruitment to DNA double-strand breaksPreprint
Shao, G., Patterson-Fortin, J., Messick, T. E., Feng, D., Shanbhag, N. M., Wang, Y., & Greenberg, R. A. (2009) · Genes & Development · doi:10.1101/gad.1739609 · Cited by 154 · see citing works
Self-citationCCDC98 targets BRCA1 to DNA damage sites
Liu, Z., Wu, J., & Yu, X. (2007) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1279 · Cited by 148 · see citing works
The ubiquitin landscape at DNA double-strand breaks
Messick, T. E., & Greenberg, R. A. (2009) · The Journal of Cell Biology · doi:10.1083/jcb.200908074 · Cited by 130 · see citing works
Self-citationMultiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland
Sarantaus, L., Huusko, P., Eerola, H., Launonen, V., Vehmanen, P., Rapakko, K., Gillanders, E. M., Syrjäkoski, K., Kainu, T., Vahteristo, P., et al. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200529 · Cited by 97 · see citing works
Self-citationInherited 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
Recognition of DNA double strand breaks by the BRCA1 tumor suppressor network
Greenberg, R. A. (2008) · Chromosoma · doi:10.1007/s00412-008-0154-8 · Cited by 68 · see citing works
Self-citationNikkilä, J., Coleman, K. A., Morrissey, D., Pylkäs, K., Erkko, H., Messick, T. E., Karppinen, S.-M., Amelina, A., Winqvist, R., & Greenberg, R. A. (2009) · Oncogene · doi:10.1038/onc.2009.33 · Cited by 63 · see citing works
Self-citationHartikainen, J. M., Tuhkanen, H. E., Kataja, V. V., Eskelinen, M. J., Uusitupa, M. I. J., Kosma, V., & Mannermaa, A. (2006) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-05-1417 · Cited by 42 · see citing works
Self-citationEvaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility
Osório, A., Barroso, A., García, M. J., Martínez–Delgado, B., Urioste, M., & Benitez, J. J. (2008) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-9933-4 · Cited by 25 · see citing works
Novak, D. J., Sabbaghian, N., Maillet, P., Chappuis, P. O., Foulkes, W. D., & Tischkowitz, M. D. (2008) · Breast Cancer Research and Treatment · doi:10.1007/s10549-008-0134-y · Cited by 21 · see citing works
Molecular and pathological characterization of inherited breast cancer
Borg, Å. (2001) · Seminars in Cancer Biology · doi:10.1006/scbi.2001.0393 · Cited by 14 · see citing works
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Nielsen, F. C., van Overeem Hansen, T., & Sørensen, C. S. (2016) · Nature Reviews Cancer · doi:10.1038/nrc.2016.72 · Cited by 367 · 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
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Scully, R., & Xie, A. (2013) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2013.07.007 · Cited by 251 · see citing works
Hu, Y., Petit, S. A., Ficarro, S. B., Toomire, K. J., Xie, A., Lim, E., Cao, S. A., Park, E., Eck, M. J., Scully, R., et al. (2014) · Cancer Discovery · doi:10.1158/2159-8290.cd-13-0891 · Cited by 171 · see citing works
Mechanisms of BRCA1 Tumor Suppression
Silver, D. P., & Livingston, D. M. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-12-0221 · Cited by 159 · see citing works
Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
Angeli, D., Salvi, S., & Tedaldi, G. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21031128 · Cited by 122 · see citing works
Lv, Y., Zhang, W., Zhao, J., Sun, B., Qi, Y., Ji, H., Chen, C., Zhang, J., Sheng, J., Wang, T., et al. (2021) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-021-00495-6 · Cited by 120 · 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
Self-citationDeciphering the BRCA1 Tumor Suppressor Network
Jiang, Q., & Greenberg, R. A. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.r115.667931 · Cited by 95 · see citing works
Self-citationStructural basis of BRCC36 function in DNA repair and immune regulation
Rabl, J., Bunker, R. D., Schenk, A. D., Cavadini, S., Gill, M. E., Abdulrahman, W., Andrés-Pons, A., Luijsterburg, M. S., Ibrahim, A. F. M., Branigan, E., et al. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.06.002 · Cited by 84 · see citing works
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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
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Bogdanova, N. V., Helbig, S., & Dörk, T. (2013) · Hereditary Cancer in Clinical Practice · doi:10.1186/1897-4287-11-12 · Cited by 69 · see citing works
Kubo, N., Morita, M., Nakashima, Y., Kitao, H., Egashira, A., Saeki, H., Oki, E., Kakeji, Y., Oda, Y., & Maehara, Y. (2013) · Diseases of the Esophagus · doi:10.1111/dote.12107 · Cited by 67 · see citing works
Karakoyun, H. K., Yüksel, Ş., Amanoglu, I., Naserikhojasteh, L., Yeşilyurt, A., Yakıcıer, C., Timuçin, E., & Akyerli, C. B. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1052383 · Cited by 59 · see citing works
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Christou, C. M., & Kyriacou, K. C. (2013) · Biology · doi:10.3390/biology2010040 · Cited by 57 · see citing works
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Hamdi, Y., Collaborators, N., Soucy, P., Adoue, V., Michailidou, K., Canisius, S., Lemaçon, A., Droit, A., Andrulis, I. L., Anton‐Culver, H., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.12818 · Cited by 39 · see citing works
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Castillo, A., Paul, A., Sun, B., Huang, T. H., Wang, Y., Yazinski, S. A., Tyler, J., Li, L., You, M. J., Zou, L., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.06.050 · Cited by 39 · see citing works
Toland, A. E., & Andreassen, P. R. (2017) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2017-104707 · Cited by 39 · see citing works
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Pan, X., Wu, S., Wei, W., Chen, Z.-X., Wu, Y., & Gong, K.-Z. (2022) · Biomolecules · doi:10.3390/biom12070910 · Cited by 35 · see citing works
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Rabl, J. (2020) · Biomolecules · doi:10.3390/biom10111503 · Cited by 31 · see citing works
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Kuusisto, K. M., Akinrinade, O., Vihinen, M., Kankuri‐Tammilehto, M., Laasanen, S., & Schleutker, J. (2013) · PLoS ONE · doi:10.1371/journal.pone.0071802 · Cited by 30 · see citing works
Aloraifi, F., McCartan, D. P., McDevitt, T., Green, A., Bracken, A. P., & Geraghty, J. (2015) · Cancer Genetics · doi:10.1016/j.cancergen.2015.06.001 · Cited by 29 · see citing works
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Jiang, Q., Paramasivam, M., Aressy, B., Wu, J., Bellani, M. A., Tong, W., Seidman, M. M., & Greenberg, R. A. (2015) · Genes & Development · doi:10.1101/gad.264192.115 · Cited by 26 · see citing works
Self-citationRefining Breast Cancer Risk Stratification: Additional Genes, Additional Information
Kurian, A. W., Antoniou, A. C., & Domchek, S. M. (2016) · American Society of Clinical Oncology Educational Book · doi:10.1200/edbk_158817 · Cited by 25 · see citing works
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations
Kliche, J., Simonetti, L., Krystkowiak, I., Kuss, H., Diallo, M., Rask, E., Nilsson, J., Davey, N. E., & Ivarsson, Y. (2024) · Molecular Systems Biology · doi:10.1038/s44320-024-00055-4 · Cited by 20 · see citing works
Hilbers, F., Vreeswijk, M., van Asperen, C. J., & Devilee, P. (2013) · Clinical Genetics · doi:10.1111/cge.12256 · Cited by 20 · see citing works
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Harding, S. M., & Greenberg, R. A. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00103 · Cited by 19 · see citing works
Self-citationMüller, S. H., Lai, A., Valkovskaya, M., Michailidou, K., Bolla, M., Wang, Q., Dennis, J., Lush, M., Abu-Ful, Z., Ahearn, T., et al. (2023) · Genome Medicine · doi:10.1186/s13073-022-01152-5 · Cited by 14 · see citing works
Self-citationRamalho, E. A., Silva-Filho, J. L., Cartaxo, M. F. D. S., Cavalcanti, C. D. L. B., Rêgo, M. J. B. D. M., Oliveira, M. B., & Beltrão, E. I. U. F. D. P. (2014) · Biological Research · doi:10.1186/0717-6287-47-3 · Cited by 15 · see citing works
Zheng, H., Shu, T., Zhu, S., Zhang, C., Gao, M., Zhang, N., Wang, H., Yuan, J., Tai, Z., Xia, X., et al. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.725264 · Cited by 14 · see citing works
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Renault, A., Lesueur, F., Coulombe, Y., Gobeil, S., Soucy, P., Hamdi, Y., Desjardins, S., Calvez‐Kelm, F. L., Vallée, M., Voegele, C., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0156820 · Cited by 11 · see citing works
Germline EMSY sequence alterations in hereditary breast cancer and ovarian cancer families
Määttä, K. M., Nurminen, R., Kankuri‐Tammilehto, M., Kallioniemi, A. H., Laasanen, S., & Schleutker, J. (2017) · BMC Cancer · doi:10.1186/s12885-017-3488-x · Cited by 9 · see citing works
Self-citationKastnerova, L., Belousova, I. E., Michal, M., Ptáková, N., Michal, M., & Kazakov, D. V. (2019) · American Journal of Dermatopathology · doi:10.1097/dad.0000000000001491 · Cited by 9 · see citing works
Sachsenweger, J., Jansche, R., Merk, T., Heitmeir, B., Deniz, M., Faust, U., Roggia, C., Tzschach, A., Schroeder, C., Rieß, A., et al. (2023) · Cell Death and Disease · doi:10.1038/s41419-023-05845-6 · Cited by 8 · see citing works
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Prieto, G., Fullaondo, A., & Rodríguez, J. A. (2016) · Scientific Reports · doi:10.1038/srep25869 · Cited by 7 · see citing works
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Haanpää, M. K. (2014) · Cited by 6 · see citing works
Sun, Y., Wang, X. K., & Li, B. (2015) · Genetics and Molecular Research · doi:10.4238/2015.august.10.4 · Cited by 6 · see citing works
Bose, M., Sachsenweger, J., Laurila, N., Parplys, A. C., Willmann, J., Jungwirth, J., Groth, M., Rapakko, K., Nieminen, P. A., Friedl, T. W. P., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz252 · Cited by 6 · see citing works
Self-citationBadgujar, D. C. (2012) · Journal of Cancer Science & Therapy · doi:10.4172/1948-5956.1000172 · Cited by 4 · see citing works
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Ling, H., Li, S., Wu, Y. F., Zheng, Y.-Z., Qiao, F., Yao, L., Cao, Z.-G., Ye, F.-G., Wu, J., Hu, X., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.7112 · Cited by 3 · see citing works
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Drikos, I. G., & Boutou, E. (2017) · Translational Medicine · doi:10.4172/2161-1025.1000197 · Cited by 1 · see citing works
A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report
Salgado, J., Santisteban, M., GUTIÉRREZ, C., Gil, C., Robles, M., VIEDMA, A., & Patiño‐García, A. (2013) · Oncology Letters · doi:10.3892/ol.2013.1440
Genomic Consequences of Ovarian Cancer with Respect to DNA Damage and Repair Mechanism
Verma, S., Chander, G., Shah, R., & Kumar, R. (2022) · IntechOpen eBooks · doi:10.5772/intechopen.108431
Mueller, S. H., Lai, A. G., Valkovskaya, M., Michailidou, K., Bolla, M. K., Wang, Q., Dennis, J., Lush, M. J., Abu-Ful, Z., Ahearn, T. U., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26564400
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Shannon, K. M., & Chittenden, A. B. (2014) · Springer eBooks · doi:10.1007/978-1-4939-1267-4_1
- Authors
- Solyom, S., Aressy, B., Pylkäs, K., Patterson-Fortin, J., Hartikainen, J. M., Kallioniemi, A., Kauppila, S., Nikkilä, J., Kosma, V.-M., Mannermaa, A., Greenberg, R. A., & Winqvist, R.
- Affiliations
- Laboratory of Cancer Genetics, Department of Clinical Genetics, Institute of Clinical Medicine and Biocenter Oulu, University of Oulu, Oulu University Hospital, Aapistie 5A, FI-90220 Oulu, Finland.
- Abramson Cancer Center (US)
- Oulu University Hospital (FI)
- University of Eastern Finland (FI)
- Tampere University Hospital (FI)
- Corresponding author
- Aressy, Bernadette
- Pylkäs, Katri
- Patterson-Fortin, Jeffrey
- Greenberg, Roger A.
- Winqvist, Robert
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2012-02-22
- Volume
- 4
- Issue
- 122
- Pages
- 122ra23-122ra23
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC3869525
- OpenAlex
- W2115343458
- Cited by
- 59
- References
- 37
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 3 · 2022: 3 · 2021: 3 · 2020: 2 · 2019: 4 · 2018: 1 · 2017: 3 · 2016: 8 · 2015: 5 · 2014: 10 · 2013: 10 · 2012: 3
- FWCI
- 5.40
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Canadian Institutes of Health Research
- National Cancer Institute (R01CA138835)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- Abraxas, breast cancer susceptibility, BRCA1, BRCT domain, DNA damage response, nuclear localization, germline mutations, hereditary breast cancer, tumor suppressor network, single nucleotide polymorphisms
- MeSH terms
- Adult, Amino Acid Sequence, Base Sequence, Breast Neoplasms, Carrier Proteins, Cell Nucleus, DNA Damage, Female, Finland, Genetic Testing, Heterozygote, Humans, Male, Molecular Sequence Data, Mutation, Pedigree, Amino Acid Substitution, Protein Transport, Cell Line, Tumor, DNA Breaks, Double-Stranded
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