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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributorTorres-López, Diana María
dc.creatorCoignard, Juliette
dc.creatorLush, Michael
dc.creatorBeesley, Jonathan
dc.creatorO’Mara, Tracy A.
dc.creatorDennis, Joe
dc.creatorTyrer, Jonathan P.
dc.creatorBarnes, Daniel R.
dc.creatorMcGuffog, Lesley
dc.creatorLeslie, Goska
dc.creatorBolla, Manjeet K.
dc.creatorAdank, Muriel A.
dc.creatorAgata, Simona
dc.creatorAhearn, Thomas
dc.creatorAittomäki, Kristiina
dc.creatorAndrulis, Irene L.
dc.creatorAnton-Culver, Hoda
dc.creatorArndt, Volker
dc.creatorArnold, Norbert
dc.creatorAronson, Kristan J.
dc.creatorArun, Banu K.
dc.creatorAugustinsson, Annelie
dc.creatorAzzollini, Jacopo
dc.creatorBarrowdale, Daniel
dc.creatorBaynes, Caroline
dc.creatorBecher, Heiko
dc.creatorBermisheva, Marina
dc.creatorBernstein, Leslie
dc.creatorBiałkowska, Katarzyna
dc.creatorBlomqvist, Carl
dc.creatorBojesen, Stig E.
dc.creatorBonanni, Bernardo
dc.creatorBorg, Ake
dc.creatorBrauch, Hiltrud
dc.creatorBrenner, Hermann
dc.creatorBurwinkel, Barbara
dc.creatorBuys, Saundra S.
dc.creatorCaldés, Trinidad
dc.creatorCaligo, Maria A.
dc.creatorCampa, Daniele
dc.creatorCarter, Brian D.
dc.creatorCastelao, Jose E.
dc.creatorChang-Claude, Jenny
dc.creatorChanock, Stephen J.
dc.creatorChung, Wendy K.
dc.creatorClaes, Kathleen B. M.
dc.creatorClarke, Christine L.
dc.creatorGEMO Study Collaborators
dc.creatorEMBRACE Collaborators
dc.creatorMargriet Collée, J.
dc.creatorConroy, Don M.
dc.creatorCzene, Kamila
dc.creatorDaly, Mary B.
dc.creatorDevilee, Peter
dc.creatorDiez, Orland
dc.creatorChun Ding, Yuan
dc.creatorDomchek, Susan M.
dc.creatorDörk, Thilo
dc.creatordos-Santos-Silva, Isabel
dc.creatorDunning, Alison M.
dc.creatorDwek, Miriam
dc.creatorEccles, Diana M.
dc.creatorEliassen, Heather A.
dc.creatorEngel, Christoph
dc.creatorEriksson, Mikael
dc.creatorEvans, D. Gareth
dc.creatorFasching, Peter A.
dc.creatorFlyger, Henrik
dc.creatorFostira, Florentia
dc.creatorFriedman, Eitan
dc.creatorFritschi, Lin
dc.creatorFrost, Debra
dc.creatorGago-Dominguez, Manuela
dc.creatorGapstur, Susan M.
dc.creatorGarber, Judy
dc.creatorGarcia-Barberan, Vanesa
dc.creatorGarcía-Closas, Montserrat
dc.creatorGarcía-Sáenz, José A.
dc.creatorGaudet, Mia M.
dc.creatorGayther, Simon A.
dc.creatorGehrig, Andrea
dc.creatorGeorgoulias, Vassilios
dc.creatorGiles, Graham G.
dc.creatorGodwin, Andrew K.
dc.creatorGoldberg, Mark S.
dc.creatorGoldgar, David E.
dc.creatorGonzález-Neira, Anna
dc.creatorGreene, Mark H.
dc.creatorGuénel, Pascal
dc.creatorHaeberle, Lothar
dc.creatorHahnen, Eric
dc.creatorHaiman, Christopher A.
dc.creatorHåkansson, Niclas
dc.creatorHall, Per
dc.creatorHamann, Ute
dc.creatorHarrington, Patricia A.
dc.creatorHart, Steven N.
dc.creatorHe, Wei
dc.creatorHogervorst, Frans B. L.
dc.creatorHollestelle, Antoinette
dc.creatorHopper, John L.
dc.creatorHorcasitas, Darling J.
dc.creatorHulick, Peter J.
dc.creatorHunter, David J.
dc.creatorImyanitov, Evgeny N.
dc.creatorKConFab Investigators
dc.creatorHEBON Investigators
dc.creatorABCTB Investigators
dc.creatorJager, Agnes
dc.creatorJakubowska, Anna
dc.creatorJames, Paul A.
dc.creatorBirk Jensen, Uffe
dc.creatorJohn, Esther M.
dc.creatorJones, Michael E.
dc.creatorKaaks, Rudolf
dc.creatorMiddha Kapoor, Pooja
dc.creatorKarlan, Beth Y.
dc.creatorKeeman, Renske
dc.creatorKhusnutdinova, Elza
dc.creatorKiiski, Johanna I.
dc.creatorKo, Yon-Dschun
dc.creatorKosma, Veli-Matti
dc.creatorKraft, Peter
dc.creatorKurian, Allison W.
dc.creatorLaitman, Yael
dc.creatorLambrechts, Diether
dc.creatorMarchand, Loic Le
dc.creatorLester, Jenny
dc.creatorLesueur, Fabienne
dc.creatorLindstrom, Tricia
dc.creatorLopez-Fernández, Adria
dc.creatorLoud, Jennifer T.
dc.creatorLuccarini, Craig
dc.creatorMannermaa, Arto
dc.creatorManoukian, Siranoush
dc.creatorMargolin, Sara
dc.creatorMartens, John W. M.
dc.creatorMebirouk, Noura
dc.creatorMeindl, Alfons
dc.creatorMiller, Austin
dc.creatorMilne, Roger L.
dc.creatorMontagna, Marco
dc.creatorNathanson, Katherine L.
dc.creatorNeuhausen, Susan L.
dc.creatorNevanlinna, Heli
dc.creatorNielsen, Finn C.
dc.creatorO’Brien, Katie M.
dc.creatorOlopade, Olufunmilayo I.
dc.creatorOlson, Janet E.
dc.creatorOlsson, Håkan
dc.creatorOsorio, Ana
dc.creatorOttini, Laura
dc.creatorPark-Simon, Tjoung-Won
dc.creatorParsons, Michael T.
dc.creatorPedersen, Inge Sokilde
dc.creatorPeshkin, Beth
dc.creatorPeterlongo, Paolo
dc.creatorPeto, Julian
dc.creatorPharoah, Paul D. P.
dc.creatorPhillips, Kelly-Anne
dc.creatorPolley, Eric C.
dc.creatorPoppe, Bruce
dc.creatorPresneau, Nadege
dc.creatorPujana, Miquel Angel
dc.creatorPunie, Kevin
dc.creatorRadice, Paolo
dc.creatorRantala, Johanna
dc.creatorRashid, Muhammad U.
dc.creatorRennert, Gad
dc.creatorRennert, Hedy S.
dc.creatorRobson, Mark
dc.creatorRomero, Atocha
dc.creatorRossing, Maria
dc.creatorSaloustros, Emmanouil
dc.creatorSandler, Dale P.
dc.creatorSantella, Regina
dc.creatorScheuner, Maren T.
dc.creatorSchmidt, Marjanka K.
dc.creatorSchmidt, Gunnar
dc.creatorScott, Christopher
dc.creatorSharma, Priyanka
dc.creatorSoucy, Penny
dc.creatorSouthey, Melissa C.
dc.creatorSpinelli, John J.
dc.creatorSteinsnyder, Zoe
dc.creatorStone, Jennifer
dc.creatorStoppa-Lyonnet, Dominique
dc.creatorSwerdlow, Anthony J.
dc.creatorTamimi, Rulla M.
dc.creatorTapper, William J.
dc.creatorTaylor, Jack A.
dc.creatorTerry, Mary Beth
dc.creatorTeulé, Alex
dc.creatorThull, Darcy L.
dc.creatorTischkowitz, Marc
dc.creatorToland, Amanda E.
dc.creatorTorres-López, Diana María
dc.creatorTrainer, Alison H.
dc.creatorTruong, Thérèse
dc.creatorTung, Nadine
dc.creatorVachon, Celine M.
dc.creatorVega, Ana
dc.creatorVijai, Joseph
dc.creatorWang, Qin
dc.creatorWappenschmidt, Barbara
dc.creatorWeinberg, Clarice R.
dc.creatorWeitzel, Jeffrey N.
dc.creatorWendt, Camilla
dc.creatorWolk, Alicja
dc.creatorYadav, Siddhartha
dc.creatorYang, Xiaohong R.
dc.creatorYannoukakos, Drakoulis
dc.creatorZheng, Wei
dc.creatorZiogas, Argyrios
dc.creatorZorn, Kristin K.
dc.creatorPark, Sue K.
dc.creatorThomassen, Mads
dc.creatorOffit, Kenneth
dc.creatorSchmutzler, Rita K.
dc.creatorCouch, Fergus J.
dc.creatorSimard, Jacques
dc.creatorChenevix-Trench, Georgia
dc.creatorEaston, Douglas F.
dc.creatorAndrieu, Nadine
dc.creatorAntoniou, Antonis C.
dc.date2023-03-17T14:20:02Z
dc.date2023-03-17T14:20:02Z
dc.date2021-02-17
dc.date.accessioned2025-10-30T13:42:54Z
dc.date.available2025-10-30T13:42:54Z
dc.identifierhttps://www.nature.com/articles/s41467-020-20496-3
dc.identifier2041-1723
dc.identifierhttp://hdl.handle.net/10554/63841
dc.identifierhttps://doi.org/10.1038/s41467-020-20496-3
dc.identifierinstname:Pontificia Universidad Javeriana
dc.identifierreponame:Repositorio Institucional - Pontificia Universidad Javeriana
dc.identifierrepourl:https://repository.javeriana.edu.co
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/186676
dc.descriptionQ1
dc.descriptionQ1
dc.descriptionBreast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.
dc.descriptionhttps://orcid.org/0000-0002-9879-9775
dc.descriptionRevista Internacional - Indexada
dc.descriptionA1
dc.descriptionNo
dc.formatPDF
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.relation1
dc.relation22
dc.relationNature Communications
dc.relation12
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.titleA case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista
dc.typehttp://purl.org/coar/resource_type/c_6501


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