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Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.creatorMavaddat, Nasim
dc.creatorPharoah, Paul D.P.
dc.creatorMichailidou, Kyriaki
dc.creatorTyrer, Jonathan
dc.creatorBolla, Manjeet K.
dc.creatorWang, Qin
dc.creatorDennis, Joe
dc.creatorDunning, Alison Margaret
dc.creatorShah, Mitul N.
dc.creatorLuben, Robert N.
dc.creatorBrown, Judith
dc.creatorBojesen, Stig Egil
dc.creatorNordestgaard, Børge Gørnne
dc.creatorNielsen, Sune Fallgaard
dc.creatorFlyger, Henrik
dc.creatorCzene, Kamila
dc.creatorDarabi, Hatef
dc.creatorEriksson, Mikael
dc.creatorPeto, Julian
dc.creatorDos-Santos-Silva, Isabel
dc.creatorDudbridge, Frank
dc.creatorJohnson, Nichola
dc.creatorSchmidt, Marjanka K.
dc.creatorBroeks, Annegien
dc.creatorVerhoef, Senno
dc.creatorTh Rutgers, Emiel J.
dc.creatorSwerdlow, Anthony J.
dc.creatorAshworth, Alan A.
dc.creatorOrr, Nick J.
dc.creatorSchoemaker, Minouk J.
dc.creatorFigueroa, Jonine D.
dc.creatorChanock, Stephen J.
dc.creatorBrinton, Louise Annette
dc.creatorLissowska, Jolanta
dc.creatorOlson, Janet E.
dc.creatorVachon, Celine M.
dc.creatorPankratz, Vernon S.
dc.creatorLambrechts, Diether
dc.creatorWildiers, Hans
dc.creatorVan Ongeval, Chantal
dc.creatorVan Limbergen, Erik
dc.creatorKristensen, Vessela N.
dc.creatorGrenaker-Alnæs, Grethe Irene
dc.creatorNord, Silje H.
dc.creatorBørresen-Dale, Anne Lise
dc.creatorNevanlinna, Heli A.
dc.creatorMuranen, Taru A.
dc.creatorBlomqvist, Carl
dc.creatorChang-Claude, Jenny C.
dc.creatorRudolph, Anja
dc.creatorSeibold, Petra
dc.creatorFlesch-Janys, Dieter
dc.creatorFasching, Peter A.
dc.creatorHaeberle, Lothar
dc.creatorEkici, Arif B.
dc.creatorBeckmann, Matthias W.
dc.creatorBurwinkel, Barbara
dc.creatorMarmé, Frederik
dc.creatorSchneeweiss, Andreas
dc.creatorSohn, Christof
dc.creatorTrentham-Dietz, Amy
dc.creatorNewcomb, Polly A.
dc.creatorTitus-Ernstoff, Linda T.
dc.creatorEgan, Kathleen Marie
dc.creatorHunter, David John
dc.creatorLindström, Sara
dc.creatorTamimi, Rulla M.
dc.creatorKraft, Peter
dc.creatorRahman, Nazneen
dc.creatorTurnbull, Clare A.
dc.creatorRenwick, Anthony
dc.creatorSeal, Sheila
dc.creatorLi, Jingmei
dc.creatorLiu, Jianjun
dc.creatorHumphreys, Keith
dc.creatorBenitez, Javier
dc.creatorZamora, M. Pilar
dc.creatorArias-Pérez, José Ignacio
dc.creatorMenéndez, Primitiva C.
dc.creatorJakubowska, Anna
dc.creatorLubiński, Jan A.
dc.creatorJaworska-Bieniek, Katarzyna
dc.creatorDurda, Katarzyna M.
dc.creatorBogdanova, Natalia Valerijevna
dc.creatorAntonenkova, Natalia Nikolaevna
dc.creatorDörk, Thilo
dc.creatorAnton-Culver, Hoda
dc.creatorNeuhausen, Susan L.
dc.creatorZiogas, Argyrios
dc.creatorBernstein, Leslie R.
dc.creatorDevilee, Peter
dc.creatorTollenaar, Rob A. E. M.
dc.creatorSeynaeve, Caroline M.
dc.creatorvan Asperen, Christi J.
dc.creatorCox, Angela
dc.creatorCross, Simon S.
dc.creatorReed, Malcolm WR
dc.creatorKhusnutdinova, Elza Kh
dc.creatorBermisheva, Marina A.
dc.creatorProkofyeva, Darya S.
dc.creatorTakhirova, Zalina R.
dc.creatorMeindl, Alfons
dc.creatorSchmutzler, Rita K.
dc.creatorSutter, Christian
dc.creatorYang, Rongxi
dc.creatorSchürmann, Peter
dc.creatorBremer, Michael
dc.creatorChristiansen, Hans
dc.creatorPark-Simon, Tjoung Won
dc.creatorHillemanns, Peter
dc.creatorGuénel, Pascal
dc.creatorTruong, Thérèse
dc.creatorMénégaux, Florence
dc.creatorSanchez, Marie
dc.creatorRadice, Paolo
dc.creatorPeterlongo, Paolo
dc.creatorManoukian, Siranoush
dc.creatorPensotti, Valeria
dc.creatorHopper, John Llewelyn
dc.creatorTsimiklis, Helen
dc.creatorApicella, Carmel
dc.creatorSouthey, Melissa C.
dc.creatorBrauch, Hiltrud B.
dc.creatorBrüning, Thomas
dc.creatorKo, Yon Dschun
dc.creatorSigurdson, Alice J.
dc.creatorDoody, Michele Morin
dc.creatorHamann, Ute
dc.creatorUlmer, Hans Ulrich
dc.creatorSawyer, Elinor J.
dc.creatorTomlinson, Ian
dc.creatorKerin, Michael J.
dc.creatorMiller, Nicola
dc.creatorAndrulis, Irene L.
dc.creatorKnight, Julia A.
dc.creatorGlendon, Gord
dc.creatorMulligan, Anna Marie
dc.creatorChenevix-Trench, Georgia
dc.creatorBalleine, Rosemary L.
dc.creatorGiles, Graham G.
dc.creatorMilne, Roger L.
dc.creatorMcLean, Catriona
dc.creatorLindblom, Annika
dc.creatorMargolin, Sara
dc.creatorHaiman, Christopher A.
dc.creatorHenderson, Brian E.
dc.creatorSchumacher, Fredrick R.
dc.creatorMarchand, Loïc Le
dc.creatorEilber, Ursula
dc.creatorWang-Gohrke, Shan
dc.creatorHooning, Maartje Joanneke
dc.creatorHollestelle, Antoinette
dc.creatorvan den Ouweland, Ans M.W.
dc.creatorKoppert, Linetta B.
dc.creatorCarpenter, Jane E.
dc.creatorClarke, Christine L.
dc.creatorScott, Rodney J.
dc.creatorMannermaa, Arto
dc.creatorKataja, Vesa V.
dc.creatorKosma, Veli Matti
dc.creatorHartikainen, Jaana M.
dc.creatorBrenner, Hermann
dc.creatorArndt, Volker R.
dc.creatorStegmaier, Christa
dc.creatorDieffenbach, Aida Karina
dc.creatorWinqvist, Robert
dc.creatorPylkäs, Katri
dc.creatorJukkola-Vuorinen, Arja
dc.creatorGrip, Mervi
dc.creatorOffit, Kenneth
dc.creatorVijai, Joseph
dc.creatorRobson, Mark E.
dc.creatorRau-Murthy, Rohini
dc.creatorDwek, Miriam Victoria
dc.creatorSwann, Ruth
dc.creatorAnnie Perkins, Katherine
dc.creatorGoldberg, Mark S.
dc.creatorLabrèche, France
dc.creatorDumont, Martine
dc.creatorEccles, Diana M.
dc.creatorTapper, William J.
dc.creatorRafiq, Sajjad
dc.creatorJohn, Esther M.
dc.creatorWhittemore, Alice S.
dc.creatorSlager, Susan L.
dc.creatorYannoukakos, Drakoulis
dc.creatorToland, Amanda Ewart
dc.creatorYao, Song
dc.creatorZheng, Wei
dc.creatorGonzález-Neira, Anna
dc.creatorPita, Guillermo
dc.creatorAlonso, María Rosario
dc.creatorÁlvarez, Nuria
dc.creatorHerrero, Daniel
dc.creatorTessier, Daniel C.
dc.creatorVincent, Daniel
dc.creatorBacot, François
dc.creatorLuccarini, Craig
dc.creatorBaynes, Caroline
dc.creatorAhmed, Shahana
dc.creatorMaranian, Mel J.
dc.creatorHealey, Catherine S.
dc.creatorSimard, Jacques
dc.creatorHall, Per
dc.creatorEaston, Douglas F.
dc.creatorGarcía-Closas, Montserrat
dc.creatorBrook, Mark N.
dc.creatorCouch, Fergus J.
dc.creatorAittomäki, Kristiina A.U.
dc.creatorTorres López, Diana María
dc.creatorFörsti, Asta
dc.creatorHalverson, Sandra L.
dc.date2020-03-04T12:18:23Z
dc.date2020-04-15T13:32:30Z
dc.date2020-03-04T12:18:23Z
dc.date2020-04-15T13:32:30Z
dc.date2015-04-02
dc.date.accessioned2025-10-30T13:11:32Z
dc.date.available2025-10-30T13:11:32Z
dc.identifierhttps://academic.oup.com/jnci/article/107/5/djv036/891009
dc.identifier0027-8874 / 1460-2105 (Electrónico)
dc.identifierhttp://hdl.handle.net/10554/47461
dc.identifierhttps://doi.org/10.1093/jnci/djv036
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/176836
dc.descriptionQ1
dc.descriptionQ1
dc.descriptionArtículo original
dc.description1-15
dc.descriptionBackground: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. Methods: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. Results: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. Conclusions: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.
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.sourceJNCI : Journal of the National Cancer Institute; Vol. 107 Núm. 5 (2015)
dc.titlePrediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
dc.titlePrediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants
dc.typeinfo:eu-repo/semantics/article
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista


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