دورية أكاديمية
Exploring the link between MORF4L1 and risk of breast cancer
| العنوان: | Exploring the link between MORF4L1 and risk of breast cancer |
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| المؤلفون: | Martrat, Griselda, Maxwell, Christopher A., Tominaga, Emiko, Porta-de-la-Riva, Montserrat, Bonifaci, Nuria, Gomez-Baldo, Laia, Bogliolo, Massimo, Lazaro, Conxi, Blanco, Ignacio, Brunet, Joan, Aguilar, Helena, Fernandez-Rodriguez, Juana, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Kuehl, Julia, Neveling, Kornelia, Schindler, Detlev, Ramirez, Maria J., Castella, Maria, Hernandez, Gonzalo, Easton, Douglas F., Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Brewer, Carole, Morrison, Patrick J., Porteous, Mary, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Roversi, Gaia, Barile, Monica, Viel, Alessandra, Pasini, Barbara, Ottini, Laura, Putignano, Anna Laura, Savarese, Antonella, Bernard, Loris, Radice, Paolo, Healey, Sue, Spurdle, Amanda, Chen, Xiaoqing, Beesley, Jonathan, Rookus, Matti A., Verhoef, Senno, Tilanus-Linthorst, Madeleine A., Vreeswijk, Maaike P., Asperen, Christi J., Bodmer, Danielle, Ausems, Margreet G. E. M., van Os, Theo A., Blok, Marinus J., Meijers-Heijboer, Hanne E. J., Hogervorst, Frans B. L., Goldgar, David E., Buys, Saundra, John, Esther M., Miron, Alexander, Southey, Melissa, Daly, Mary B., Harbst, Katja, Borg, Åke, Rantala, Johanna, Barbany-Bustinza, Gisela, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Johannsson, Oskar Thor, Couch, Fergus J., Wang, Xianshu, Fredericksen, Zachary, Cuadras, Daniel, Moreno, Vctor, Pientka, Friederike K., Depping, Reinhard, Caldes, Trinidad, Osorio, Ana, Benitez, Javier, Bueren, Juan, Heikkinen, Tuomas, Nevanlinna, Heli, Hamann, Ute, Torres, Diana, Caligo, Maria Adelaide, Godwin, Andrew K., Imyanitov, Evgeny N., Janavicius, Ramunas, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Verny-Pierre, Carole, Castera, Laurent, de Pauw, Antoine, Bignon, Yves-Jean, Uhrhammer, Nancy, Peyrat, Jean-Philippe, Vennin, Philippe, Ferrer, Sandra Fert, Collonge-Rame, Marie-Agnes, Mortemousque, Isabelle, McGuffog, Lesley, Chenevix-Trench, Georgia, Pereira-Smith, Olivia M., Antoniou, Antonis C., Ceron, Julian, Tominaga, Kaoru, Surralles, Jordi, Angel Pujana, Miguel |
| المصدر: | Breast Cancer Research; 13(2), no R40 (2011) ; ISSN: 1465-5411 |
| بيانات النشر: | BioMed Central (BMC) |
| سنة النشر: | 2011 |
| المجموعة: | Lund University Publications (LUP) |
| مصطلحات موضوعية: | Cancer and Oncology, Rad51 Recombinase, RNA Interference, Nuclear Proteins, Mutation, Mice, Humans, Genetic Predisposition to Disease, BRCA2, BRCA1, Genes, Female, Fanconi Anemia Complementation Group D2 Protein, Fanconi Anemia, DNA Repair, DNA Damage, Cell Line, Caenorhabditis elegans, Animals, Breast Neoplasms, Replication Protein A, Risk Factors, Transcription Factors, Tumor Suppressor Proteins, Two-Hybrid System Techniques |
| الوصف: | 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 g-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, P-trend = 0.45 and 0.05, P-2df = 0.51 and 0.14, respectively; and rs10519219, P-trend = 0.92 and 0.72, P-2df = 0.76 and 0.07, ... |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| ردمك: | 978-0-00-292694-2 0-00-292694-6 |
| العلاقة: | https://lup.lub.lu.se/record/2094273Test; http://dx.doi.org/10.1186/bcr2862Test; https://portal.research.lu.se/files/2156604/2224138.pdfTest; wos:000292694600029; scopus:84860405722; pmid:21466675 |
| DOI: | 10.1186/bcr2862 |
| الإتاحة: | https://doi.org/10.1186/bcr2862Test https://lup.lub.lu.se/record/2094273Test https://portal.research.lu.se/files/2156604/2224138.pdfTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.4FC5A1CC |
| قاعدة البيانات: | BASE |
| ردمك: | 9780002926942 0002926946 |
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| DOI: | 10.1186/bcr2862 |