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Fine-mapping of the 1p11.2 breast cancer susceptibility locus

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dc.contributor.authorHorne, Hisani N.
dc.contributor.authorChung, Charles C.
dc.contributor.authorZhang, Han
dc.contributor.authorYu, Kai
dc.contributor.authorProkunina-Olsson, Ludmila
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorBolla, Manjeet K.
dc.contributor.authorWang, Qin
dc.contributor.authorDennis, Joe
dc.contributor.authorHopper, John L.
dc.contributor.authorSouthey, Melissa C.
dc.contributor.authorSchmidt, Marjanka K.
dc.contributor.authorBroeks, Annegien
dc.contributor.authorMuir, Kenneth
dc.contributor.authorLophatananon, Artitaya
dc.contributor.authorFasching, Peter A.
dc.contributor.authorBeckmann, Matthias W.
dc.contributor.authorFletcher, Olivia
dc.contributor.authorJohnson, Nichola
dc.contributor.authorSawyer, Elinor J.
dc.contributor.authorTomlinson, Ian
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorMarme, Frederik
dc.contributor.authorGuénel, Pascal
dc.contributor.authorTruong, Thérèse
dc.contributor.authorBojesen, Sting E.
dc.contributor.authorFlyger, Henrik
dc.contributor.authorBenitez, Javier
dc.contributor.authorGonzález Neira, Anna
dc.contributor.authorAnton Culver, Hoda
dc.contributor.authorNeuhausen, Susan L.
dc.contributor.authorBrenner, Hermann
dc.contributor.authorArndt, Volker
dc.contributor.authorMeindl, Alfons
dc.contributor.authorSchmutzler, Rita K.
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorHamann, Ute
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorKhan, Sofia
dc.contributor.authorMatsuo, Keitaro
dc.contributor.authorIwata, Hiroji
dc.contributor.authorDörk, Thilo
dc.contributor.authorBogdanova, Natalia V.
dc.contributor.authorLindblom, Annika
dc.contributor.authorMargolin, Sara
dc.contributor.authorMannermaa, Arto
dc.contributor.authorKosma, Veli Matti
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorWu, Anna H.
dc.contributor.authorVen den Berg, David
dc.contributor.authorSmeets, Ann
dc.contributor.authorZhao, Hui
dc.contributor.authorChang Claude, Jenny
dc.contributor.authorRudolph, Anja
dc.contributor.authorRadice, Paolo
dc.contributor.authorBarile, Monica
dc.contributor.authorCouch, Fergus J.
dc.contributor.authorVachon, Celine
dc.contributor.authorGiles, Graham G.
dc.contributor.authorMilne, Roger L.
dc.contributor.authorHaiman, Christopher A.
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorGoldberg, Mark S.
dc.contributor.authorTeo, Soo H.
dc.contributor.authorMohd Taib, Nur Hartini
dc.contributor.authorKristensen, Vessela
dc.contributor.authorBorresen Dale, Anne Lise
dc.contributor.authorZheng, Wei
dc.contributor.authorShrubsole, Martha
dc.contributor.authorWinqvist, Robert
dc.contributor.authorJukkola Vuorinen, Arja
dc.contributor.authorAndrulis, Irene L.
dc.contributor.authorKnight, Julia A.
dc.contributor.authorDevilee, Peter
dc.contributor.authorSeynaeve, Caroline
dc.contributor.authorGarcía-Closas, Montserrat
dc.contributor.authorCzene, Kamila
dc.contributor.authorDarabi, Hatef
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorMartens, John
dc.contributor.authorLi, Jingmei
dc.contributor.authorLu, Wei
dc.contributor.authorShu, Xiao Ou
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S.
dc.contributor.authorBlot, William
dc.contributor.authorCai, Qiuyin
dc.contributor.authorShah, Mitul
dc.contributor.authorLuccarini, Craig
dc.contributor.authorBaynes, Caroline
dc.contributor.authorHarrington, Patricia
dc.contributor.authorKang, Daehee
dc.contributor.authorChoi, Ji-Yeob
dc.contributor.authorHartman, Mikael
dc.contributor.authorChia, Kee Seng
dc.contributor.authorKabisch, Maria
dc.contributor.authorTorres, Diana
dc.contributor.authorJakubowska, Anna
dc.contributor.authorLubinski, Jan
dc.contributor.authorSangrajrang, Suleeporn
dc.contributor.authorBrennan, Paul
dc.contributor.authorSlager, Susan
dc.contributor.authorYannoukakos, Drakoulis
dc.contributor.authorShen, Chen Yang
dc.contributor.authorHou, Ming Feng
dc.contributor.authorSwerdlow, Anthony
dc.contributor.authorOrr, Nick
dc.contributor.authorSimard, Jacques
dc.contributor.authorHall, Per
dc.contributor.authorPharoah, Paul
dc.contributor.authorEaston, Douglas F.
dc.contributor.authorChanock, Stephen J.
dc.contributor.authorDunning, Alison M.
dc.contributor.authorFigueroa, Jonine D.
dc.contributor.authorkConFab/AOCS Investigators
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.date.accessioned2020-03-10T20:34:18Z
dc.date.accessioned2020-04-15T13:32:06Z
dc.date.available2020-03-10T20:34:18Z
dc.date.available2020-04-15T13:32:06Z
dc.date.created2016-08-24
dc.description.abstractenglishThe Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS)originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associ-ated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kbregion (120,505,799–121,481,132) flanking rs11249433 in 45,276 breast cancer cases and48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Can-cer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Dueto the complicated nature of the region on chr1p11.2: 120,300,000–120,505,798, that liesnear the centromere and contains seven duplicated genomic segments, we restricted anal-yses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression modelsadjusting for study and ancestry-specific principal components. The strongest associationobserved was with the original identified index SNP rs11249433 (minor allele frequency(MAF) 0.402; per-allele odds ratio (OR) = 1.10, 95% confidence interval (CI) 1.08–1.13,P=1.49 x 10-21). The association for rs11249433 was limited to ER-positive breast cancers(test for heterogeneityP 8.41 x 10-5). Additional analyses by other tumor characteristicsshowed stronger associations with moderately/well differentiated tumors and tumors of lob-ular histology. Although no significant eQTL associations were observed, in silico analysesshowed that rs11249433 was located in a region that is likely a weak enhancer/promoter.Fine-mapping analysis of the 1p11.2 breast cancer susceptibility locus confirms this regionto be limited to risk to cancers that are ER-positive.spa
dc.description.paginas1-15spa
dc.description.quartilescopusQ1spa
dc.description.quartilewosQ2spa
dc.description.tipoarticuloArtículo de investigaciónspa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.format.soporteElectrónicospa
dc.identifierhttps://journals.plos.org/plosone/article?id=10.1371/journal.pone.0160316spa
dc.identifier.doihttps://doi.org/10.1371/journal.pone.0160316spa
dc.identifier.issn1932-6203 (Électrónico)spa
dc.identifier.urihttp://hdl.handle.net/10554/47560
dc.languagespaspa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourcePLoS ONE; Vol. 11 Núm. 8 (2016)spa
dc.titleFine-mapping of the 1p11.2 breast cancer susceptibility locusspa
dc.title.englishFine-mapping of the 1p11.2 breast cancer susceptibility locusspa
dc.typeinfo:eu-repo/semantics/article
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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