Per citar aquest document: http://ddd.uab.cat/record/116788
Exploring the link between MORF4L1 and risk of breast cancer
Martrat, Griselda (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Maxwell, Christopher A. (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Tominaga, Emiko (The University of Texas Health Science Center at San Antonio)
Porta de la Riva, Montserrat (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Bonifaci, Núria (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Gomez-Baldo, Laia (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Blanco, Ignacio (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Brunet, Joan (Hospital Joan Trueta (Girona, Catalunya))
Aguilar, Helena (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Fernandez-Rodriguez, Juana (Hospital Joan Trueta (Girona, Catalunya))
Seal, Sheila (Institute of Cancer Research (Sutton, Regne Unit))
Renwick, Anthony (Institute of Cancer Research (Sutton, Regne Unit))
Rahman, Nazneen (Institute of Cancer Research (Sutton, Regne Unit))
Kühl, Julia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya))
Neveling, Kornelia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya))
Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya))
Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Castellà, María (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Easton, Douglas F. (University of Cambridge. Department of Public Health and Primary Care)
Peock, Susan (University of Cambridge. Department of Public Health and Primary Care)
Cook, Margaret (University of Cambridge. Department of Public Health and Primary Care)
Oliver, Clare T. (University of Cambridge. Department of Public Health and Primary Care)
Frost, Debra (University of Cambridge. Department of Public Health and Primary Care)
Platte, Radka (University of Cambridge. Department of Oncology,)
Evans, D. Gareth (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit))
Lalloo, Fiona (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit))
Eeles, Rosalind (The Institute of Cancer Research (Sutton, Regne Unit))
Izatt, Louise (Guy's and St Thomas NHS Foundation Trust (Londres, Regne Unit))
Chu, Carol (Yorkshire Regional Genetics Service (Leeds, Regne Unit))
Davids, Rosemarie (Ferguson-Smith Centre for Clinical Genetics (Glasgow, Regne Unit))
Ong, Kai-Ren (Birmingham Women's Hospital Healthcare NHS Trust (Birmingham, Regne Unit))
Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit))
Douglas, Fiona (Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, Regne Unit))
Hodgson, Shirley (University of London. St George's Hospital. Clinical Genetics Department)
Brewer, Carole (Royal Devon & Exeter Hospital (Exeter, Regne Unit))
Morrison, Patrick J. (Northern Ireland Regional Genetics Centre (Belfast, Regne Unit))
Porteous, Mary (South East of Scotland Regional Genetics Service (Edimburg, Regne Unit))
Peterlongo, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia))
Manoukian, Siranoush (Fondazione IRCCS INT (Milà, Itàlia))
Peissel, Bernard (Fondazione IRCCS INT (Milà, Itàlia))
Zaffaroni, Daniela (Fondazione IRCCS INT (Milà, Itàlia))
Roversi, Gaia (Fondazione IRCCS INT (Milà, Itàlia))
Barile, Monica (Istituto Europeo di Oncologia (Milà, Itàlia))
Viel, Alessandra (Centro di Riferimento Oncologico (Aviano, Itàlia))
Pasini, Barbara (University of Turin. Department of Genetics, Biology and Biochemistry (Torí, Itàlia))
Ottini, Laura (Sapienza University of Rome. Department of Molecular Medicine)
Putignano, Anna Laura (University of Florence. Department of Clinical Physiopathology (Florència, Itàlia))
Savarese, Antonella (Regina Elena Cancer Institute (Roma, Itàlia))
Bernard, Loris (IEO. Department of Experimental Oncology (Milà, Itàlia))
Radice, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia))
Healey, Sue (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia))
Spurdle, Amanda (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia))
Chen, Xiaoqing (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia))
Beesley, Jonathan (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia))
Rookus, Matti A. (The Netherlands Cancer Institute. Department of Epidemiology (Amsterdam, Països Baixos))
Verhoef, Senno (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos))
Tilanus-Linthorst, Madeleine A. (Erasmus MC-Daniel den Hoed Cancer Center (Rotterdam, Països Baixos))
Vreeswijk, Maaike P. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos))
Asperen, Christi J. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos))
Bodmer, Danielle (Radboud University Nijmegen Medical Center. Department of Human Genetics (Nijmegen, Països Baixos))
Ausems, Margreet G. E. M. (University Medical Center Utrecht. Department of Medical Genetics (Utrecht, Països Baixos))
van Os, Theo A. (Academic Medical Center, Department of Clinical Genetics (Amsterdam, Països Baixos))
Blok, Marinus J. (University Hospital Maastricht. Department of Clinical Genetics (Maastricht, Països Baixos))
Meijers-Heijboer, Hanne E. J. (VU Medical Center. Department of Clinical Genetics (Amsterdam, Països Baixos))
Hogervorst, Frans B. L. (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos))
Goldgar, David E. (University of Utah School of Medicine. Department of Dermatology (Salt Lake City, Estats Units d'Amèrica))
Buys, Saundra (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica))
John, Esther M. (Cancer Prevention Institute of California (Fremont, Estats Units d'Amèrica))
Miron, Alexander (Dana-Farber Cancer Institute. Department of Cancer Biology (Boston, Estats Units d'Amèrica))
Southey, Melissa (The University of Melbourne. Melbourne School of Population Health (Austràlia))
Daly, Mary B. (Fox Chase Cancer Center. Division of Population Science (Philadelphia, Estats Units d'Amèrica))
Harbst, Katja (Lund University. Department of Oncology (Lund, Suècia))
Borg, Åke (Lund University. Department of Oncology (Lund, Suècia))
Rantala, Johanna (Karolinska University Hospital. Department of Clinical Genetics (Estocolm, Suècia))
Barbany-Bustinza, Gisela (Karolinska University Hospital. Department of Clinical Genetics (Estocolm, Suècia))
Ehrencrona, Hans (Uppsala University. Departament of Genetics and Pathology (Uppsala, Suècia))
Stenmark-Askmalm, Marie (Hälsouniversitetet Universitetssjukhuset. Department of Oncology (Linköping, Suècia))
Kaufman, Bella (Chaim Sheba Medical Center. The Institute of Oncology (Ramat Gan, Israel))
Laitman, Yael (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel))
Milgrom, Roni (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel))
Friedman, Eitan (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel))
Domchek, Susan M. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica))
Nathanson, Katherine L. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica))
Rebbeck, Timothy R. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica))
Johannsson, Oskar Thor (20A Landspitali-LSH v/Hringbraut. Department of Oncology (Reykjavik, Islàndia))
Couch, Fergus J. (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica))
Wang, Xianshu (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica))
Fredericksen, Zachary (Mayo Clinic. Department of Health Sciences Research (Rochester, Estats Units d'Amèrica))
Cuadras, Daniel (Institut d'Investigació Biomèdica de Bellvitge. Statistical Assessment Service (L'Hospitalet del Llobregat, Catalunya))
Moreno, Víctor (South East of Scotland Regional Genetics Service, Western General Hospital (Edimburg, Regne Unit))
Pientka, Friederike K. (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya))
Depping, Reinhard (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya))
Caldés, Trinidad (Hospital Clínico San Carlos. Medical Oncology Branch (Madrid, Espanya))
Osorio, Ana (Spanish National Cancer Research Centre. Human Cancer Genetics Programme (Madrid, Espanya))
Benítez, Javier (Spanish National Cancer Research Centre. Human Cancer Genetics Programme (Madrid, Espanya))
Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales, y Tecnológicas (Madrid, Espanya))
Heikkinen, Tuomas (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia))
Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Tominaga, Kaoru (The University of Texas Health Science Center at San Antonio)
Cerón, Julián (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya))
Antoniou, Antonis C. (University of Cambridge. Department of Public Health and Primary Care)
Fert Ferrer, Sandra (Hôtel Dieu Centre Hospitalier (Chambéry, França))
Collonge-Rame, Marie-Agnès (Centre Hospitalier Universitaire de Besançon (Besançon, França))
Mortemousque, Isabelle (Centre Hospitalier Universitaire Bretonneau (Tours, França))
McGuffog, Lesley (University of Cambridge. Department of Public Health and Primary Care)
Chenevix-Trench, Georgia (Queensland Institute of Medical Research (Brisbane, Austràlia))
Pereira-Smith, Olivia M. (The University of Texas Health Science Center at San Antonio)
Nevanlinna, Heli (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia))
Hamann, Ute (Deutsches Krebsforschungszentrum (Heidelberg, Alemanya))
Torres, Diana (Pontificia Universidad Javeriana. Instituto de Genética Humana (Bogota, Colòmbia))
Caligo, Maria Adelaide (University Hospital of Pisa. Section of Genetic Oncology (Pisa, Itàlia))
Godwin, Andrew K. (University of Kansas Medical Center. Department of Pathology and Laboratory MedicineCenter (Kansas, Estats Units d'Amèrica))
Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology. Laboratory of Molecular Oncology (Sant Petersburg, Rússia))
Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics. Hematology, Oncology and Transfusion Medicine Center (Vilnius, Lituània))
Sinilnikova, Olga M. (Centre Hospitalier Universitaire de Lyon. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents (Lyon, França))
Stoppa-Lyonnet, Dominique (Institut Curie. Service de Génétique Oncologique (Paris, França))
Mazoyer, Sylvie (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França))
Verny-Pierre, Carole (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França))
Castera, Laurent (Institut Curie. Service de Génétique Oncologique (Paris, França))
de Pauw, Antoine (Institut Curie. Service de Génétique Oncologique (Paris, França))
Bignon, Yves-Jean (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França))
Uhrhammer, Nancy (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França))
Peyrat, Jean-Philippe (Centre Oscar Lambret. Laboratoire d'Oncologie Moléculaire Humaine (Lille, França))
Vennin, Philippe (Centre Oscar Lambret. Consultation d'Oncogénétique (Lille, França))
The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)
The Netherlands Cancer Institute. Hereditary Breast and Ovarian Cancer Group (HEBON)
University of Utah School of Medicine. Breast Cancer Family Registry (Salt Lake City, Estats Units d'Amèrica)
Lund University. Swedish Breast Cancer Study (Lund, Suècia)
Fédération Nationale des Centres de Lutte Contre le Cancer. Groupe Génétique et Cancer (Lyon, França)

Data: 2011
Resum: 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.
Drets: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Llengua: Anglès.
Document: article ; publishedVersion
Publicat a: Breast cancer research, Vol. 13, Núm. R40 (4 2011) -14, ISSN 1465-542X

DOI: 10.1186/bcr2862


14 p, 2.9 MB

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