Mostrar el registro sencillo del ítem

Exploring the link between MORF4L1 and risk of breast cancer

Exploring the link between MORF4L1 and risk of breast cancer

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.creatorMartrat, Griselda
dc.creatorMaxwell, Christopher A.
dc.creatorTominaga, Emiko
dc.creatorPorta-de-la-Riva, Montserrat
dc.creatorBonifaci, Núria
dc.creatorGómez-Baldó, Laia
dc.creatorBogliolo, Massimo
dc.creatorLázaro, Conxi
dc.creatorBlanco, Ignacio
dc.creatorBrunet, Joan
dc.creatorAguilar, Helena
dc.creatorFernández-Rodríguez, Juana
dc.creatorSeal, Sheila
dc.creatorRenwick, Anthony
dc.creatorRahman, Nazneen
dc.creatorKühl, Julia
dc.creatorNeveling, Kornelia
dc.creatorSchindler, Detlev
dc.creatorRamírez, María J.
dc.creatorCastellà, María
dc.creatorHernández, Gonzalo
dc.creatorEMBRACE
dc.creatorEaston, Douglas F.
dc.creatorPeock, Susan
dc.creatorCook, Margaret
dc.creatorOliver, Clare T.
dc.creatorFrost, Debra
dc.creatorPlatte, Radka
dc.creatorEvans, D. Gareth
dc.creatorLalloo, Fiona
dc.creatorEeles, Rosalind
dc.creatorIzatt, Louise
dc.creatorChu, Carol
dc.creatorDavidson, Rosemarie
dc.creatorOng, Kai-Ren
dc.creatorCook, Jackie
dc.creatorDouglas, Fiona
dc.creatorHodgson, Shirley
dc.creatorBrewer, Carole
dc.creatorMorrison, Patrick J.
dc.creatorPorteous, Mary
dc.creatorPeterlongo, Paolo
dc.creatorManoukian, Siranoush
dc.creatorPeissel, Bernard
dc.creatorZaffaroni, Daniela
dc.creatorRoversi, Gaia
dc.creatorBarile, Monica
dc.creatorViel, Alessandra
dc.creatorPasini, Barbara
dc.creatorOttini, Laura
dc.creatorPutignano, Anna Laura
dc.creatorSavarese, Antonella
dc.creatorBernard, Loris
dc.creatorRadice, Paolo
dc.creatorHealey, Sue
dc.creatorSpurdle, Amanda
dc.creatorChen, Xiaoqing
dc.creatorBeesley, Jonathan
dc.creatorkConFab Investigators
dc.creatorRookus, Matti A.
dc.creatorVerhoef, Senno
dc.creatorTilanus-Linthorst, Madeleine A.
dc.creatorVreeswijk, Maaike P.
dc.creatorAsperen, Christi J.
dc.creatorBodmer, Danielle
dc.creatorVan Os, Theo A.
dc.creatorBlok, Marinus J.
dc.creatorHogervorst, Frans BL
dc.creatorHEBON
dc.creatorGoldgar, David E.
dc.creatorAusems, Margreet G. E. M.
dc.creatorMeijers-Heijboer, Hanne E. J.
dc.creatorBuys, Saundra
dc.creatorJohn, Esther M.
dc.creatorMiron, Alexander
dc.creatorSouthey, Melissa
dc.creatorDaly, Mary B.
dc.creatorBCFR
dc.creatorSWE-BRCA
dc.creatorHarbst, Katja
dc.creatorBorg, Ake
dc.creatorRantala, Johanna
dc.creatorBarbany-Bustinza, Gisela
dc.creatorEhrencrona, Hans
dc.creatorStenmark-Askmalm, Marie
dc.creatorKaufman, Bella
dc.creatorLaitman, Yael
dc.creatorMilgrom, Roni
dc.creatorFriedman, Eitan
dc.creatorDomchek, Susan M.
dc.creatorNathanson, Katherine L.
dc.creatorRebbeck, Timothy R.
dc.creatorJohannsson, Oskar Thor
dc.creatorCouch, Fergus J.
dc.creatorWang, Xianshu
dc.creatorFredericksen, Zachary
dc.creatorCuadras, Daniel
dc.creatorMoreno, Víctor
dc.creatorPientka, Friederike K.
dc.creatorDepping, Reinhard
dc.creatorCaldés, Trinidad
dc.creatorOsorio, Ana
dc.creatorBenítez, Javier
dc.creatorBueren, Juan
dc.creatorHeikkinen, Tuomas
dc.creatorNevanlinna, Heli
dc.creatorHamann, Ute
dc.creatorTorres, Diana
dc.creatorCaligo, Maria Adelaide
dc.creatorGodwin, Andrew K.
dc.creatorImyanitov, Evgeny N.
dc.creatorJanavicius, Ramunas
dc.creatorGEMO Study Collaborators
dc.creatorSinilnikova, Olga M.
dc.creatorStoppa-Lyonnet, Dominique
dc.creatorMazoyer, Sylvie
dc.creatorVerny-Pierre, Carole
dc.creatorCastera, Laurent
dc.creatorDe Pauw, Antoine
dc.creatorBignon, Yves-Jean
dc.creatorUhrhammer, Nancy
dc.creatorPeyrat, Jean-Philippe
dc.creatorVennin, Philippe
dc.creatorFerrer, Sandra Fert
dc.creatorCollonge-Rame, Marie-Agnès
dc.creatorMortemousque, Isabelle
dc.creatorMcGuffog, Lesley
dc.creatorChenevix-Trench, Georgia
dc.creatorPereira-Smith, Olivia M.
dc.creatorAntoniou, Antonis C.
dc.creatorCerón, Julián
dc.creatorTominaga, Kaoru
dc.creatorSurrallés, Jordi
dc.creatorPujana, Miguel Angel
dc.date2020-03-09T19:46:25Z
dc.date2020-04-15T13:33:50Z
dc.date2020-03-09T19:46:25Z
dc.date2020-04-15T13:33:50Z
dc.date2011-04-05
dc.date.accessioned2025-10-30T14:04:20Z
dc.date.available2025-10-30T14:04:20Z
dc.identifierhttps://breast-cancer-research.biomedcentral.com/articles/10.1186/bcr2862
dc.identifier14655411 / 1465542X (Electrónico)
dc.identifierhttp://hdl.handle.net/10554/47550
dc.identifierhttps://doi.org/10.1186/bcr2862
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/193441
dc.descriptionQ1
dc.descriptionQ1
dc.descriptionArtículo de investigación
dc.description1-14
dc.descriptionIntroduction: 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-onoubiquitinylation-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, 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.
dc.formatPDF
dc.formatapplication/pdf
dc.formatPapel / Electrónico
dc.formatapplication/pdf
dc.languagespa
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.sourceBreast Cancer Research; Vol. 13 Núm. 2 (2011)
dc.subjectMutation Carrier
dc.subjectFanconi Anemia
dc.subjectBRCA2 Mutation Carrier
dc.subjectBrCa
dc.subjectProphylactic Oophorectomy
dc.titleExploring the link between MORF4L1 and risk of breast cancer
dc.titleExploring the link between MORF4L1 and risk of breast cancer
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista


Ficheros en el ítem

FicherosTamañoFormatoVer

No hay ficheros asociados a este ítem.

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem