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Exploring the link between MORF4L1 and risk of breast cancer
dc.contributor.author | Martrat, Griselda | |
dc.contributor.author | Maxwell, Christopher A. | |
dc.contributor.author | Tominaga, Emiko | |
dc.contributor.author | Porta-de-la-Riva, Montserrat | |
dc.contributor.author | Bonifaci, Núria | |
dc.contributor.author | Gómez-Baldó, Laia | |
dc.contributor.author | Bogliolo, Massimo | |
dc.contributor.author | Lázaro, Conxi | |
dc.contributor.author | Blanco, Ignacio | |
dc.contributor.author | Brunet, Joan | |
dc.contributor.author | Aguilar, Helena | |
dc.contributor.author | Fernández-Rodríguez, Juana | |
dc.contributor.author | Seal, Sheila | |
dc.contributor.author | Renwick, Anthony | |
dc.contributor.author | Rahman, Nazneen | |
dc.contributor.author | Kühl, Julia | |
dc.contributor.author | Neveling, Kornelia | |
dc.contributor.author | Schindler, Detlev | |
dc.contributor.author | Ramírez, María J. | |
dc.contributor.author | Castellà, María | |
dc.contributor.author | Hernández, Gonzalo | |
dc.contributor.author | EMBRACE | |
dc.contributor.author | Easton, Douglas F. | |
dc.contributor.author | Peock, Susan | |
dc.contributor.author | Cook, Margaret | |
dc.contributor.author | Oliver, Clare T. | |
dc.contributor.author | Frost, Debra | |
dc.contributor.author | Platte, Radka | |
dc.contributor.author | Evans, D. Gareth | |
dc.contributor.author | Lalloo, Fiona | |
dc.contributor.author | Eeles, Rosalind | |
dc.contributor.author | Izatt, Louise | |
dc.contributor.author | Chu, Carol | |
dc.contributor.author | Davidson, Rosemarie | |
dc.contributor.author | Ong, Kai-Ren | |
dc.contributor.author | Cook, Jackie | |
dc.contributor.author | Douglas, Fiona | |
dc.contributor.author | Hodgson, Shirley | |
dc.contributor.author | Brewer, Carole | |
dc.contributor.author | Morrison, Patrick J. | |
dc.contributor.author | Porteous, Mary | |
dc.contributor.author | Peterlongo, Paolo | |
dc.contributor.author | Manoukian, Siranoush | |
dc.contributor.author | Peissel, Bernard | |
dc.contributor.author | Zaffaroni, Daniela | |
dc.contributor.author | Roversi, Gaia | |
dc.contributor.author | Barile, Monica | |
dc.contributor.author | Viel, Alessandra | |
dc.contributor.author | Pasini, Barbara | |
dc.contributor.author | Ottini, Laura | |
dc.contributor.author | Putignano, Anna Laura | |
dc.contributor.author | Savarese, Antonella | |
dc.contributor.author | Bernard, Loris | |
dc.contributor.author | Radice, Paolo | |
dc.contributor.author | Healey, Sue | |
dc.contributor.author | Spurdle, Amanda | |
dc.contributor.author | Chen, Xiaoqing | |
dc.contributor.author | Beesley, Jonathan | |
dc.contributor.author | kConFab | |
dc.contributor.author | Rookus, Matti A. | |
dc.contributor.author | Verhoef, Senno | |
dc.contributor.author | Tilanus-Linthorst, Madeleine A. | |
dc.contributor.author | Vreeswijk, Maaike P. | |
dc.contributor.author | Asperen, Christi J. | |
dc.contributor.author | Bodmer, Danielle | |
dc.contributor.author | Ausems, Margreet GEM | |
dc.contributor.author | Van Os, Theo A. | |
dc.contributor.author | Blok, Marinus J. | |
dc.contributor.author | Meijers-Heijboer, Hanne EJ | |
dc.contributor.author | Hogervorst, Frans BL | |
dc.contributor.author | HEBON | |
dc.contributor.author | Goldgar, David E. | |
dc.contributor.author | Buys, Saundra | |
dc.contributor.author | John, Esther M. | |
dc.contributor.author | Miron, Alexander | |
dc.contributor.author | Southey, Melissa | |
dc.contributor.author | Daly, Mary B. | |
dc.contributor.author | BCFR | |
dc.contributor.author | SWE-BRCA | |
dc.contributor.author | Harbst, Katja | |
dc.contributor.author | Borg, Åke | |
dc.contributor.author | Rantala, Johanna | |
dc.contributor.author | Barbany-Bustinza, Gisela | |
dc.contributor.author | Ehrencrona, Hans | |
dc.contributor.author | Stenmark-Askmalm, Marie | |
dc.contributor.author | Kaufman, Bella | |
dc.contributor.author | Laitman, Yael | |
dc.contributor.author | Milgrom, Roni | |
dc.contributor.author | Friedman, Eitan | |
dc.contributor.author | Domchek, Susan M. | |
dc.contributor.author | Nathanson, Katherine L. | |
dc.contributor.author | Rebbeck, Timothy R. | |
dc.contributor.author | Johannsson, Oskar Thor | |
dc.contributor.author | Couch, Fergus J. | |
dc.contributor.author | Wang, Xianshu | |
dc.contributor.author | Fredericksen, Zachary | |
dc.contributor.author | Cuadras, Daniel | |
dc.contributor.author | Moreno, Víctor | |
dc.contributor.author | Pientka, Friederike K. | |
dc.contributor.author | Depping, Reinhard | |
dc.contributor.author | Caldés, Trinidad | |
dc.contributor.author | Osorio, Ana | |
dc.contributor.author | Benítez, Javier | |
dc.contributor.author | Bueren, Juan | |
dc.contributor.author | Heikkinen, Tuomas | |
dc.contributor.author | Nevanlinna, Heli | |
dc.contributor.author | Hamann, Ute | |
dc.contributor.author | Torres, Diana | |
dc.contributor.author | Caligo, Maria Adelaide | |
dc.contributor.author | Godwin, Andrew K. | |
dc.contributor.author | Imyanitov, Evgeny N. | |
dc.contributor.author | Janavicius, Ramunas | |
dc.contributor.author | GEMO Study Collaborators | |
dc.contributor.author | Sinilnikova, Olga M. | |
dc.contributor.author | Stoppa-Lyonnet, Dominique | |
dc.contributor.author | Mazoyer, Sylvie | |
dc.contributor.author | Verny-Pierre, Carole | |
dc.contributor.author | Castera, Laurent | |
dc.contributor.author | De Pauw, Antoine | |
dc.contributor.author | Bignon, Yves-Jean | |
dc.contributor.author | Uhrhammer, Nancy | |
dc.contributor.author | Peyrat, Jean-Philippe | |
dc.contributor.author | Vennin, Philippe | |
dc.contributor.author | Fert Ferrer, Sandra | |
dc.contributor.author | Collonge-Rame, Marie-Agnès | |
dc.contributor.author | Mortemousque, Isabelle | |
dc.contributor.author | McGuffog, Lesley | |
dc.contributor.author | Chenevix-Trench, Georgia | |
dc.contributor.author | Pereira-Smith, Olivia M. | |
dc.contributor.author | Antoniou, Antonis C. | |
dc.contributor.author | Cerón, Julián | |
dc.contributor.author | Tominaga, Kaoru | |
dc.contributor.author | Surrallés, Jordi | |
dc.contributor.author | Pujana, Miguel Angel | |
dc.date.accessioned | 2024-01-23T12:35:37Z | |
dc.date.available | 2024-01-23T12:35:37Z | |
dc.date.issued | 2011 | |
dc.identifier.citation | Martrat, Griselda; Maxwell, Christopher A.; Tominaga, Emiko [et al.]. Exploring the link between MORF4L1 and risk of breast cancer. Breast Cancer Research, 2011, 13, R40. Disponible en: <https://breast-cancer-research.biomedcentral.com/articles/10.1186/bcr2862>. Fecha de acceso: 23 ene. 2024. DOI: 10.1186/bcr2862 | ca |
dc.identifier.issn | 1465-542X | ca |
dc.identifier.uri | http://hdl.handle.net/20.500.12328/3947 | |
dc.description.abstract | Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. Methods: Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk. Results: A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to γ-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells. However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, Ptrend = 0.45 and 0.05, P2df = 0.51 and 0.14, respectively; and rs10519219, Ptrend = 0.92 and 0.72, P2df = 0.76 and 0.07, respectively. Conclusions: While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2 mutation carriers. | ca |
dc.format.extent | 14 | ca |
dc.language.iso | eng | ca |
dc.publisher | Springer Nature | ca |
dc.relation.ispartof | Breast Cancer Research | ca |
dc.relation.ispartofseries | 13 | |
dc.rights | This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. | ca |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.subject.other | Portador de mutacions | ca |
dc.subject.other | Anèmia de Fanconi | ca |
dc.subject.other | Portador de mutació BRCA2 | ca |
dc.subject.other | BrCa | ca |
dc.subject.other | Ooforectomia profilàctica | ca |
dc.subject.other | Portador de mutación | ca |
dc.subject.other | Anemia de Fanconi | ca |
dc.subject.other | Portador de mutación BRCA2 | ca |
dc.subject.other | BrCa | ca |
dc.subject.other | Ooforectomía profiláctica | ca |
dc.subject.other | Mutation carrier | ca |
dc.subject.other | Fanconi anemia | ca |
dc.subject.other | BRCA2 mutation carrier | ca |
dc.subject.other | BrCa | ca |
dc.subject.other | Prophylactic oophorectomy | ca |
dc.title | Exploring the link between MORF4L1 and risk of breast cancer | ca |
dc.type | info:eu-repo/semantics/article | ca |
dc.description.version | info:eu-repo/semantics/publishedVersion | ca |
dc.rights.accessLevel | info:eu-repo/semantics/openAccess | |
dc.embargo.terms | cap | ca |
dc.subject.udc | 61 | ca |
dc.identifier.doi | https://dx.doi.org/10.1186/bcr2862 | ca |
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