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Exploring the link ...
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Martrat, GriseldaIDIBELL,University Med Centre Utrecht
(author)
Exploring the link between MORF4L1 and risk of breast cancer
- Article/chapterEnglish2011
Publisher, publication year, extent ...
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2011-04-05
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Springer Science and Business Media LLC,2011
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:abfff1a4-5eb7-4fa1-bb7c-717d45d9b1fd
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https://lup.lub.lu.se/record/2094273URI
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https://doi.org/10.1186/bcr2862DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:122911763URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-156692URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-69933URI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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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.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Maxwell, Christopher A.IDIBELL
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Tominaga, EmikoUniversity of Texas Health Science Centre San Antonio
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Schindler, DetlevUniversity Wurzbur
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Ramirez, Maria J.Autonomous University Barcelona
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Castella, MariaAutonomous University Barcelon
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Hernandez, GonzaloAutonomous University Barcelona
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Morrison, Patrick J.Belfast City Hospital
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Zaffaroni, DanielaFdn IRCCS INT
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Borg, ÅkeLund 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 Hospital(Swepub:lu)onk-abo
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Mazoyer, SylvieUniversity Lyon 1
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Verny-Pierre, CaroleUniversity Lyon 1
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de Pauw, AntoineInstitute Curie
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Tominaga, KaoruUniversity Texas Hlth Science Centre San Antonio
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Surralles, JordiAutonomous University Barcelona
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Angel Pujana, MiguelCatalan Institute of Oncology, IDIBELL, Spain
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IDIBELLUniversity Med Centre Utrecht
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In:Breast Cancer Research: Springer Science and Business Media LLC13:21465-54111465-542X
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