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dc.contributor.authorSawyer, Elinor
dc.contributor.authorRoylance, Rebecca
dc.contributor.authorPetridis, Christos
dc.contributor.authorBrook, Mark N
dc.contributor.authorNowinski, Salpie
dc.contributor.authorPapouli, Efterpi
dc.contributor.authorFletcher, Olivia
dc.contributor.authorPinder, Sarah
dc.contributor.authorHanby, Andrew
dc.contributor.authorKohut, Kelly
dc.contributor.authorGorman, Patricia
dc.contributor.authorCaneppele, Michele
dc.contributor.authorPeto, Julian
dc.contributor.authorDos Santos Silva, Isabel
dc.contributor.authorJohnson, Nichola
dc.contributor.authorSwann, Ruth
dc.contributor.authorDwek, Miriam
dc.contributor.authorPerkins, Katherine-Anne
dc.contributor.authorGillett, Cheryl
dc.contributor.authorHoulston, Richard
dc.contributor.authorRoss, Gillian
dc.contributor.authorDe Ieso, Paolo
dc.contributor.authorSouthey, Melissa C
dc.contributor.authorHopper, John L
dc.contributor.authorProvenzano, Elena
dc.contributor.authorApicella, Carmel
dc.contributor.authorWesseling, Jelle
dc.contributor.authorCornelissen, Sten
dc.contributor.authorKeeman, Renske
dc.contributor.authorFasching, Peter A
dc.contributor.authorJud, Sebastian M
dc.contributor.authorEkici, Arif B
dc.contributor.authorBeckmann, Matthias W
dc.contributor.authorKerin, Michael J
dc.contributor.authorMarme, Federick
dc.contributor.authorSchneeweiss, Andreas
dc.contributor.authorSohn, Christof
dc.contributor.authorBurwinkel, Barbara
dc.contributor.authorGuénel, Pascal
dc.contributor.authorTruong, Therese
dc.contributor.authorLaurent-Puig, Pierre
dc.contributor.authorKerbrat, Pierre
dc.contributor.authorBojesen, Stig E
dc.contributor.authorNordestgaard, Børge G
dc.contributor.authorNielsen, Sune F
dc.contributor.authorFlyger, Henrik
dc.contributor.authorMilne, Roger L
dc.contributor.authorPerez, Jose Ignacio Arias
dc.contributor.authorMenéndez, Primitiva
dc.contributor.authorBenitez, Javier
dc.contributor.authorBrenner, Hermann
dc.contributor.authorDieffenbach, Aida Karina
dc.contributor.authorArndt, Volker
dc.contributor.authorStegmaier, Christa
dc.contributor.authorMeindl, Alfons
dc.contributor.authorLichtner, Peter
dc.contributor.authorSchmutzler, Rita K
dc.contributor.authorLochmann, Magdalena
dc.contributor.authorBrauch, Hiltrud
dc.contributor.authorFischer, Hans-Peter
dc.contributor.authorKo, Yon-Dschun
dc.contributor.authorGENICA Network
dc.contributor.authorNevanlinna, Heli
dc.contributor.authorMuranen, Taru A
dc.contributor.authorAittomäki, Kristiina
dc.contributor.authorBlomqvist, Carl
dc.contributor.authorBogdanova, Natalia V
dc.contributor.authorDörk, Thilo
dc.contributor.authorLindblom, Annika
dc.contributor.authorMargolin, Sara
dc.contributor.authorMannermaa, Arto
dc.contributor.authorKataja, Vesa
dc.contributor.authorKosma, Veli-Matti
dc.contributor.authorHartikainen, Jaana M
dc.contributor.authorChenevix-Trench, Georgia
dc.contributor.authorKConFab Investigators
dc.contributor.authorLambrechts, Diether
dc.contributor.authorWeltens, Caroline
dc.contributor.authorVan Limbergen, Erik
dc.contributor.authorHatse, Sigrid
dc.contributor.authorChang-Claude, Jenny
dc.contributor.authorRudolph, Anja
dc.contributor.authorSeibold, Petra
dc.contributor.authorFlesch-Janys, Dieter
dc.contributor.authorRadice, Paolo
dc.contributor.authorPeterlongo, Paolo
dc.contributor.authorBonanni, Bernardo
dc.contributor.authorVolorio, Sara
dc.contributor.authorGiles, Graham G
dc.contributor.authorSeveri, Gianluca
dc.contributor.authorBaglietto, Laura
dc.contributor.authorMcLean, Catriona A
dc.contributor.authorHaiman, Christopher A
dc.contributor.authorHenderson, Brian E
dc.contributor.authorSchumacher, Fredrick
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorSimard, Jacques
dc.contributor.authorGoldberg, Mark S
dc.contributor.authorLabrèche, France
dc.contributor.authorDumont, Martine
dc.contributor.authorKristensen, Vessela
dc.contributor.authorWinqvist, Robert
dc.contributor.authorPylkäs, Katri
dc.contributor.authorJukkola-Vuorinen, Arja
dc.contributor.authorKauppila, Saila
dc.contributor.authorAndrulis, Irene L
dc.contributor.authorKnight, Julia A
dc.contributor.authorGlendon, Gord
dc.contributor.authorMulligan, Anna Marie
dc.contributor.authorDevillee, Peter
dc.contributor.authorTollenaar, Rob AEM
dc.contributor.authorSeynaeve, Caroline M
dc.contributor.authorKriege, Mieke
dc.contributor.authorFigueroa, Jonine
dc.contributor.authorChanock, Stephen J
dc.contributor.authorSherman, Mark E
dc.contributor.authorHooning, Maartje J
dc.contributor.authorHollestelle, Antoinette
dc.contributor.authorvan den Ouweland, Ans MW
dc.contributor.authorvan Deurzen, Carolien HM
dc.contributor.authorLi, Jingmei
dc.contributor.authorCzene, Kamila
dc.contributor.authorHumphreys, Keith
dc.contributor.authorCox, Angela
dc.contributor.authorCross, Simon S
dc.contributor.authorReed, Malcolm WR
dc.contributor.authorShah, Mitul
dc.contributor.authorJakubowska, Anna
dc.contributor.authorLubinski, Jan
dc.contributor.authorJaworska-Bieniek, Katarzyna
dc.contributor.authorDurda, Katarzyna
dc.contributor.authorSwerdlow, Anthony
dc.contributor.authorAshworth, Alan
dc.contributor.authorOrr, Nicholas
dc.contributor.authorSchoemaker, Minouk
dc.contributor.authorCouch, Fergus J
dc.contributor.authorHallberg, Emily
dc.contributor.authorGonzález-Neira, Anna
dc.contributor.authorPita, Guillermo
dc.contributor.authorAlonso, M Rosario
dc.contributor.authorTessier, Daniel C
dc.contributor.authorVincent, Daniel
dc.contributor.authorBacot, Francois
dc.contributor.authorBolla, Manjeet K
dc.contributor.authorWang, Qin
dc.contributor.authorDennis, Joe
dc.contributor.authorMichailidou, Kyriaki
dc.contributor.authorDunning, Alison M
dc.contributor.authorHall, Per
dc.contributor.authorEaston, Doug
dc.contributor.authorPharoah, Paul
dc.contributor.authorSchmidt, Marjanka K
dc.contributor.authorTomlinson, Ian
dc.contributor.authorGarcia-Closas, Montserrat
dc.date.accessioned2018-11-09T00:30:22Z
dc.date.available2018-11-09T00:30:22Z
dc.date.issued2014-04
dc.identifier.issn1553-7390
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284877
dc.description.abstractInvasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95%CI) for ILC = 1.13 (1.09-1.18), P = 6.0 × 10(-10); P-het for ILC vs IDC ER+ tumors = 1.8 × 10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P<0.05. Two SNPs showed significantly stronger associations for ILC than LCIS (rs2981579/10q26/FGFR2, P-het = 0.04 and rs889312/5q11/MAP3K1, P-het = 0.03); and two showed stronger associations for LCIS than ILC (rs6678914/1q32/LGR6, P-het = 0.001 and rs1752911/6q14, P-het = 0.04). In addition, seven of the 75 known loci showed significant differences between ER+ tumors with IDC and ILC histology, three of these showing stronger associations for ILC (rs11249433/1p11, rs2981579/10q26/FGFR2 and rs10995190/10q21/ZNF365) and four associated only with IDC (5p12/rs10941679; rs2588809/14q24/RAD51L1, rs6472903/8q21 and rs1550623/2q31/CDCA7). In conclusion, we have identified one novel lobular breast cancer specific predisposition polymorphism at 7q34, and shown for the first time that common breast cancer polymorphisms predispose to LCIS. We have shown that many of the ER+ breast cancer predisposition loci also predispose to ILC, although there is some heterogeneity between ER+ lobular and ER+ IDC tumors. These data provide evidence for overlapping, but distinct etiological pathways within ER+ breast cancer between morphological subtypes.
dc.format.mediumElectronic-eCollection
dc.languageeng
dc.publisherPublic Library of Science (PLoS)
dc.rightsCC0 No rights reserved
dc.subjectGENICA Network
dc.subjectKConFab Investigators
dc.subjectHumans
dc.subjectCarcinoma, Lobular
dc.subjectCarcinoma in Situ
dc.subjectBreast Neoplasms
dc.subjectGenetic Predisposition to Disease
dc.subjectCase-Control Studies
dc.subjectGenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectMiddle Aged
dc.subjectFemale
dc.subjectGenome-Wide Association Study
dc.titleGenetic predisposition to in situ and invasive lobular carcinoma of the breast.
dc.typeArticle
prism.issueIdentifier4
prism.publicationDate2014
prism.publicationNamePLoS Genet
prism.startingPagee1004285
prism.volume10
dc.identifier.doi10.17863/CAM.32250
dcterms.dateAccepted2014-02-17
rioxxterms.versionofrecord10.1371/journal.pgen.1004285
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2014-04-17
dc.contributor.orcidDennis, Joe [0000-0003-4591-1214]
dc.contributor.orcidDunning, Alison [0000-0001-6651-7166]
dc.contributor.orcidEaston, Douglas [0000-0003-2444-3247]
dc.contributor.orcidPharoah, Paul [0000-0001-8494-732X]
dc.identifier.eissn1553-7404
rioxxterms.typeJournal Article/Review
pubs.funder-project-idNational Cancer Institute (R01CA128978)
pubs.funder-project-idEuropean Commission (223175)
pubs.funder-project-idCancer Research UK (16565)
pubs.funder-project-idCancer Research UK (A12014)
pubs.funder-project-idCancer Research UK (A10118)
cam.issuedOnline2014-04-17


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