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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 14640naa a2202305 4500 | |
| 001 | oai:lup.lub.lu.se:abfff1a4-5eb7-4fa1-bb7c-717d45d9b1fd | |
| 003 | SwePub | |
| 008 | 160401s2011 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:122911763 | |
| 009 | oai:DiVA.org:uu-156692 | |
| 009 | oai:DiVA.org:liu-69933 | |
| 024 | 7 | a https://lup.lub.lu.se/record/20942732 URI |
| 024 | 7 | a https://doi.org/10.1186/bcr28622 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1229117632 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1566922 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-699332 URI |
| 040 | a (SwePub)lud (SwePub)kid (SwePub)uud (SwePub)liu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Martrat, Griseldau IDIBELL,University Med Centre Utrecht4 aut |
| 245 | 1 0 | a Exploring the link between MORF4L1 and risk of breast cancer |
| 264 | c 2011-04-05 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2011 |
| 338 | a electronic2 rdacarrier | |
| 520 | a 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, 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 653 | a Rad51 Recombinase | |
| 653 | a RNA Interference | |
| 653 | a Nuclear Proteins | |
| 653 | a Mutation | |
| 653 | a Mice | |
| 653 | a Humans | |
| 653 | a Genetic Predisposition to Disease | |
| 653 | a BRCA2 | |
| 653 | a BRCA1 | |
| 653 | a Genes | |
| 653 | a Female | |
| 653 | a Fanconi Anemia Complementation Group D2 Protein | |
| 653 | a Fanconi Anemia | |
| 653 | a DNA Repair | |
| 653 | a DNA Damage | |
| 653 | a Cell Line | |
| 653 | a Caenorhabditis elegans | |
| 653 | a Animals | |
| 653 | a Breast Neoplasms | |
| 653 | a Replication Protein A | |
| 653 | a Risk Factors | |
| 653 | a Transcription Factors | |
| 653 | a Tumor Suppressor Proteins | |
| 653 | a Two-Hybrid System Techniques | |
| 653 | a MEDICINE | |
| 653 | a TECHNOLOGY | |
| 700 | 1 | a Maxwell, Christopher A.u IDIBELL4 aut |
| 700 | 1 | a Tominaga, Emikou University of Texas Health Science Centre San Antonio4 aut |
| 700 | 1 | a Porta-de-la-Riva, Montserratu Chemoresistance and Predictive Factors of Tumor Response and Stromal Microenvironment, IDIBELL, Spain4 aut |
| 700 | 1 | a Bonifaci, Nuriau IDIBELL4 aut |
| 700 | 1 | a Gomez-Baldo, Laiau IDIBELL4 aut |
| 700 | 1 | a Bogliolo, Massimou Autonomous University Barcelona4 aut |
| 700 | 1 | a Lazaro, Conxiu IDIBELL4 aut |
| 700 | 1 | a Blanco, Ignaciou IDIBELL4 aut |
| 700 | 1 | a Brunet, Joanu Hospital Josep Trueta4 aut |
| 700 | 1 | a Aguilar, Helenau Bellvitge Institute Biomed Research IDIBELL4 aut |
| 700 | 1 | a Fernandez-Rodriguez, Juanau IDIBELL4 aut |
| 700 | 1 | a Seal, Sheilau Institute Canc Research4 aut |
| 700 | 1 | a Renwick, Anthonyu Institute Canc Research4 aut |
| 700 | 1 | a Rahman, Nazneenu Institute Canc Research4 aut |
| 700 | 1 | a Kuehl, Juliau Department of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, Würzburg, Germany4 aut |
| 700 | 1 | a Neveling, Korneliau University Wurzburg4 aut |
| 700 | 1 | a Schindler, Detlevu University Wurzbur4 aut |
| 700 | 1 | a Ramirez, Maria J.u Autonomous University Barcelona4 aut |
| 700 | 1 | a Castella, Mariau Autonomous University Barcelon4 aut |
| 700 | 1 | a Hernandez, Gonzalou Autonomous University Barcelona4 aut |
| 700 | 1 | a Easton, Douglas F.u University Cambridge,Newcastle Upon Tyne Hospital NHS Trust4 aut |
| 700 | 1 | a Peock, Susanu University Cambridge4 aut |
| 700 | 1 | a Cook, Margaretu University Cambridge4 aut |
| 700 | 1 | a Oliver, Clare T.u University Cambridge4 aut |
| 700 | 1 | a Frost, Debrau University Cambridge4 aut |
| 700 | 1 | a Platte, Radkau University Cambridge4 aut |
| 700 | 1 | a Evans, D. Garethu Cent Manchester University Hospital NHS Fdn Trust4 aut |
| 700 | 1 | a Lalloo, Fionau Cent Manchester University Hospital NHS Fdn Trust4 aut |
| 700 | 1 | a Eeles, Rosalindu Institute Canc Research, Oncogenet Team4 aut |
| 700 | 1 | a Izatt, Louiseu Guys and St Thomas NHS Fdn Trust4 aut |
| 700 | 1 | a Chu, Carolu St James Hospital,University Cambridge4 aut |
| 700 | 1 | a Davidson, Rosemarieu Ferguson Smith Centre Clin Genet4 aut |
| 700 | 1 | a Ong, Kai-Renu Birmingham Womens Hospital Healthcare NHS Trust4 aut |
| 700 | 1 | a Cook, Jackieu Sheffield Childrens Hospital4 aut |
| 700 | 1 | a Douglas, Fiona4 aut |
| 700 | 1 | a Hodgson, Shirleyu University London4 aut |
| 700 | 1 | a Brewer, Caroleu Royal Devon and Exeter Hospital4 aut |
| 700 | 1 | a Morrison, Patrick J.u Belfast City Hospital4 aut |
| 700 | 1 | a Porteous, Maryu Western Gen Hospital4 aut |
| 700 | 1 | a Peterlongo, Paolou Fdn IRCCS Ist Nazl Tumori INT,Leiden University4 aut |
| 700 | 1 | a Manoukian, Siranoushu Fdn IRCCS INT4 aut |
| 700 | 1 | a Peissel, Bernardu Fdn IRCCS INT4 aut |
| 700 | 1 | a Zaffaroni, Danielau Fdn IRCCS INT4 aut |
| 700 | 1 | a Roversi, Gaiau Fdn IRCCS INT4 aut |
| 700 | 1 | a Barile, Monicau Ist Europeo Oncol IEO4 aut |
| 700 | 1 | a Viel, Alessandrau IRCCS4 aut |
| 700 | 1 | a Pasini, Barbarau University Turin4 aut |
| 700 | 1 | a Ottini, Laurau University Roma La Sapienza4 aut |
| 700 | 1 | a Putignano, Anna Laurau Fiorgen Fdn Pharmacogen4 aut |
| 700 | 1 | a Savarese, Antonellau Regina Elena Institute Canc Research4 aut |
| 700 | 1 | a Bernard, Lorisu IEO,Netherlands Canc Institute4 aut |
| 700 | 1 | a Radice, Paolou Fdn IRCCS Ist Nazl Tumori INT4 aut |
| 700 | 1 | a Healey, Sueu Queensland Institute Med Research4 aut |
| 700 | 1 | a Spurdle, Amandau Queensland Institute Med Research4 aut |
| 700 | 1 | a Chen, Xiaoqingu Queensland Institute Med Research4 aut |
| 700 | 1 | a Beesley, Jonathanu Queensland Institute Med Research4 aut |
| 700 | 1 | a Rookus, Matti A.u Netherlands Canc Institute4 aut |
| 700 | 1 | a Verhoef, Sennou Netherlands Canc Institute4 aut |
| 700 | 1 | a Tilanus-Linthorst, Madeleine A.u Erasmus MC Daniel den Hoed Canc Centre4 aut |
| 700 | 1 | a Vreeswijk, Maaike P.4 aut |
| 700 | 1 | a Asperen, Christi J.u Leiden University4 aut |
| 700 | 1 | a Bodmer, Danielleu Radboud University Nijmegen4 aut |
| 700 | 1 | a Ausems, Margreet G. E. M.4 aut |
| 700 | 1 | a van Os, Theo A.u University Amsterdam4 aut |
| 700 | 1 | a Blok, Marinus J.u University Hospital Maastricht4 aut |
| 700 | 1 | a Meijers-Heijboer, Hanne E. J.u Vrije University Amsterdam Med Centre,Canc Prevent Institute Calif4 aut |
| 700 | 1 | a Hogervorst, Frans B. L.4 aut |
| 700 | 1 | a Goldgar, David E.u University Utah4 aut |
| 700 | 1 | a Buys, Saundrau Huntsman Canc Institute4 aut |
| 700 | 1 | a John, Esther M.4 aut |
| 700 | 1 | a Miron, Alexanderu Harvard University4 aut |
| 700 | 1 | a Southey, Melissau University Melbourne4 aut |
| 700 | 1 | a Daly, Mary B.u Fox Chase Canc Centre4 aut |
| 700 | 1 | a Harbst, Katjau Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skane University Hospital4 aut0 (Swepub:lu)med-kbn |
| 700 | 1 | a Borg, Åkeu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skane University Hospital4 aut0 (Swepub:lu)onk-abo |
| 700 | 1 | a Rantala, Johannau Karolinska Institutet,Karolinska University Hospital4 aut |
| 700 | 1 | a Barbany-Bustinza, Giselau Karolinska Institutet,Karolinska University Hospital4 aut |
| 700 | 1 | a Ehrencrona, Hansu Uppsala universitet,Uppsala University,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:lu)med-hen |
| 700 | 1 | a Stenmark Askmalm, Marieu Östergötlands Läns Landsting,Linköpings universitet,Onkologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik4 aut0 (Swepub:liu)marst93 |
| 700 | 1 | a Kaufman, Bellau The Institute of Oncology, Chaim Sheba Medical Center, Israel4 aut |
| 700 | 1 | a Laitman, Yaelu Chaim Sheba Med Centre4 aut |
| 700 | 1 | a Milgrom, Roniu Chaim Sheba Med Centre4 aut |
| 700 | 1 | a Friedman, Eitanu Chaim Sheba Med Centre4 aut |
| 700 | 1 | a Domchek, Susan M.u University Penn4 aut |
| 700 | 1 | a Nathanson, Katherine L.u University Penn4 aut |
| 700 | 1 | a Rebbeck, Timothy R.u University Penn4 aut |
| 700 | 1 | a Johannsson, Oskar Thoru Department of Oncology, 20A Landspitali-LSH v/Hringbraut, Reykjavik, Iceland4 aut |
| 700 | 1 | a Couch, Fergus J.u Mayo Clin4 aut |
| 700 | 1 | a Wang, Xianshuu Mayo Clin4 aut |
| 700 | 1 | a Fredericksen, Zacharyu Mayo Clin4 aut |
| 700 | 1 | a Cuadras, Danielu IDIBELL4 aut |
| 700 | 1 | a Moreno, Vctoru IDIBELL4 aut |
| 700 | 1 | a Pientka, Friederike K.u University Lubeck4 aut |
| 700 | 1 | a Depping, Reinhardu University Lubeck4 aut |
| 700 | 1 | a Caldes, Trinidadu Hospital Clin San Carlos4 aut |
| 700 | 1 | a Osorio, Anau Spanish Natl Canc Research Centre4 aut |
| 700 | 1 | a Benitez, Javieru Spanish Natl Canc Research Centre4 aut |
| 700 | 1 | a Bueren, Juanu Centre Invest Energet Medioambientales and Tecnol CIEM,4 aut |
| 700 | 1 | a Heikkinen, Tuomasu University Helsinki4 aut |
| 700 | 1 | a Nevanlinna, Heliu University Helsinki4 aut |
| 700 | 1 | a Hamann, Uteu Deutsch Krebsforschungszentrum DKFZ4 aut |
| 700 | 1 | a Torres, Dianau Pontificia University Javeriana4 aut |
| 700 | 1 | a Caligo, Maria Adelaideu University Hospital Pisa4 aut |
| 700 | 1 | a Godwin, Andrew K.u University Kansas4 aut |
| 700 | 1 | a Imyanitov, Evgeny N.u NN Petrov Oncol Research Institute4 aut |
| 700 | 1 | a Janavicius, Ramunasu Vilnius University Hospital4 aut |
| 700 | 1 | a Sinilnikova, Olga M.u University Lyon 14 aut |
| 700 | 1 | a Stoppa-Lyonnet, Dominiqueu Institute Curie4 aut |
| 700 | 1 | a Mazoyer, Sylvieu University Lyon 14 aut |
| 700 | 1 | a Verny-Pierre, Caroleu University Lyon 14 aut |
| 700 | 1 | a Castera, Laurentu Institute Curie4 aut |
| 700 | 1 | a de Pauw, Antoineu Institute Curie4 aut |
| 700 | 1 | a Bignon, Yves-Jeanu University Clermont Ferrand4 aut |
| 700 | 1 | a Uhrhammer, Nancyu University Clermont Ferrand4 aut |
| 700 | 1 | a Peyrat, Jean-Philippeu Centre Oscar Lambret4 aut |
| 700 | 1 | a Vennin, Philippeu Consultation d'Oncogénétique, Centre Oscar Lambret, Lille, France4 aut |
| 700 | 1 | a Ferrer, Sandra Fertu Hotel Dieu Centre Hospital4 aut |
| 700 | 1 | a Collonge-Rame, Marie-Agnesu CHU Besancon4 aut |
| 700 | 1 | a Mortemousque, Isabelleu CHU Bretonneau4 aut |
| 700 | 1 | a McGuffog, Lesleyu University Cambridge4 aut |
| 700 | 1 | a Chenevix-Trench, Georgiau Queensland Institute Med Research4 aut |
| 700 | 1 | a Pereira-Smith, Olivia M.u University Texas Hlth Science Centre San Antonio4 aut |
| 700 | 1 | a Antoniou, Antonis C.4 aut |
| 700 | 1 | a Ceron, Julianu IDIBELL4 aut |
| 700 | 1 | a Tominaga, Kaoruu University Texas Hlth Science Centre San Antonio4 aut |
| 700 | 1 | a Surralles, Jordiu Autonomous University Barcelona4 aut |
| 700 | 1 | a Angel Pujana, Miguelu Catalan Institute of Oncology, IDIBELL, Spain4 aut |
| 710 | 2 | a IDIBELLb University Med Centre Utrecht4 org |
| 773 | 0 | t Breast Cancer Researchd : Springer Science and Business Media LLCg 13:2q 13:2x 1465-5411x 1465-542X |
| 856 | 4 | u https://portal.research.lu.se/files/2156604/2224138.pdfx primaryx freey FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1186/bcr2862x freey FULLTEXT |
| 856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/21466675x freey FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1186/bcr2862x freey FULLTEXT |
| 856 | 4 | u https://breast-cancer-research.biomedcentral.com/track/pdf/10.1186/bcr2862 |
| 856 | 4 | u https://liu.diva-portal.org/smash/get/diva2:433157/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
| 856 | 4 8 | u https://lup.lub.lu.se/record/2094273 |
| 856 | 4 8 | u https://doi.org/10.1186/bcr2862 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:122911763 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-156692 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-69933 |
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