Please use this identifier to cite or link to this item: https://doi.org/10.1371/journal.pgen.1004285
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dc.titleGenetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast
dc.contributor.authorSawyer E.
dc.contributor.authorRoylance R.
dc.contributor.authorPetridis C.
dc.contributor.authorBrook M.N.
dc.contributor.authorNowinski S.
dc.contributor.authorPapouli E.
dc.contributor.authorFletcher O.
dc.contributor.authorPinder S.
dc.contributor.authorHanby A.
dc.contributor.authorKohut K.
dc.contributor.authorGorman P.
dc.contributor.authorCaneppele M.
dc.contributor.authorPeto J.
dc.contributor.authordos Santos Silva I.
dc.contributor.authorJohnson N.
dc.contributor.authorSwann R.
dc.contributor.authorDwek M.
dc.contributor.authorPerkins K.-A.
dc.contributor.authorGillett C.
dc.contributor.authorHoulston R.
dc.contributor.authorRoss G.
dc.contributor.authorDe Ieso P.
dc.contributor.authorSouthey M.C.
dc.contributor.authorHopper J.L.
dc.contributor.authorProvenzano E.
dc.contributor.authorApicella C.
dc.contributor.authorWesseling J.
dc.contributor.authorCornelissen S.
dc.contributor.authorKeeman R.
dc.contributor.authorFasching P.A.
dc.contributor.authorJud S.M.
dc.contributor.authorEkici A.B.
dc.contributor.authorBeckmann M.W.
dc.contributor.authorKerin M.J.
dc.contributor.authorMarme F.
dc.contributor.authorSchneeweiss A.
dc.contributor.authorSohn C.
dc.contributor.authorBurwinkel B.
dc.contributor.authorGu�nel P.
dc.contributor.authorTruong T.
dc.contributor.authorLaurent-Puig P.
dc.contributor.authorKerbrat P.
dc.contributor.authorBojesen S.E.
dc.contributor.authorNordestgaard B.G.
dc.contributor.authorNielsen S.F.
dc.contributor.authorFlyger H.
dc.contributor.authorMilne R.L.
dc.contributor.authorPerez J.I.A.
dc.contributor.authorMen�ndez P.
dc.contributor.authorBenitez J.
dc.contributor.authorBrenner H.
dc.contributor.authorDieffenbach A.K.
dc.contributor.authorArndt V.
dc.contributor.authorStegmaier C.
dc.contributor.authorMeindl A.
dc.contributor.authorLichtner P.
dc.contributor.authorSchmutzler R.K.
dc.contributor.authorLochmann M.
dc.contributor.authorBrauch H.
dc.contributor.authorFischer H.-P.
dc.contributor.authorKo Y.-D.
dc.contributor.authorNevanlinna H.
dc.contributor.authorMuranen T.A.
dc.contributor.authorAittom�ki K.
dc.contributor.authorBlomqvist C.
dc.contributor.authorBogdanova N.V.
dc.contributor.authorD�rk T.
dc.contributor.authorLindblom A.
dc.contributor.authorMargolin S.
dc.contributor.authorMannermaa A.
dc.contributor.authorKataja V.
dc.contributor.authorKosma V.-M.
dc.contributor.authorHartikainen J.M.
dc.contributor.authorChenevix-Trench G.
dc.contributor.authorLambrechts D.
dc.contributor.authorWeltens C.
dc.contributor.authorVan Limbergen E.
dc.contributor.authorHatse S.
dc.contributor.authorChang-Claude J.
dc.contributor.authorRudolph A.
dc.contributor.authorSeibold P.
dc.contributor.authorFlesch-Janys D.
dc.contributor.authorRadice P.
dc.contributor.authorPeterlongo P.
dc.contributor.authorBonanni B.
dc.contributor.authorVolorio S.
dc.contributor.authorGiles G.G.
dc.contributor.authorSeveri G.
dc.contributor.authorBaglietto L.
dc.contributor.authorMclean C.A.
dc.contributor.authorHaiman C.A.
dc.contributor.authorHenderson B.E.
dc.contributor.authorSchumacher F.
dc.contributor.authorLe Marchand L.
dc.contributor.authorSimard J.
dc.contributor.authorGoldberg M.S.
dc.contributor.authorLabr�che F.
dc.contributor.authorDumont M.
dc.contributor.authorKristensen V.
dc.contributor.authorWinqvist R.
dc.contributor.authorPylk�s K.
dc.contributor.authorJukkola-Vuorinen A.
dc.contributor.authorKauppila S.
dc.contributor.authorAndrulis I.L.
dc.contributor.authorKnight J.A.
dc.contributor.authorGlendon G.
dc.contributor.authorMulligan A.M.
dc.contributor.authorDevillee P.
dc.contributor.authorTollenaar R.A.E.M.
dc.contributor.authorSeynaeve C.M.
dc.contributor.authorKriege M.
dc.contributor.authorFigueroa J.
dc.contributor.authorChanock S.J.
dc.contributor.authorSherman M.E.
dc.contributor.authorHooning M.J.
dc.contributor.authorHollestelle A.
dc.contributor.authorvan den Ouweland A.M.W.
dc.contributor.authorvan Deurzen C.H.M.
dc.contributor.authorLi J.
dc.contributor.authorCzene K.
dc.contributor.authorHumphreys K.
dc.contributor.authorCox A.
dc.contributor.authorCross S.S.
dc.contributor.authorReed M.W.R.
dc.contributor.authorShah M.
dc.contributor.authorJakubowska A.
dc.contributor.authorLubinski J.
dc.contributor.authorJaworska-Bieniek K.
dc.contributor.authorDurda K.
dc.contributor.authorSwerdlow A.
dc.contributor.authorAshworth A.
dc.contributor.authorOrr N.
dc.contributor.authorSchoemaker M.
dc.contributor.authorCouch F.J.
dc.contributor.authorHallberg E.
dc.contributor.authorGonz�lez-Neira A.
dc.contributor.authorPita G.
dc.contributor.authorAlonso M.R.
dc.contributor.authorTessier D.C.
dc.contributor.authorVincent D.
dc.contributor.authorBacot F.
dc.contributor.authorBolla M.K.
dc.contributor.authorWang Q.
dc.contributor.authorDennis J.
dc.contributor.authorMichailidou K.
dc.contributor.authorDunning A.M.
dc.contributor.authorHall P.
dc.contributor.authorEaston D.
dc.contributor.authorPharoah P.
dc.contributor.authorSchmidt M.K.
dc.contributor.authorTomlinson I.
dc.contributor.authorGarcia-Closas M.
dc.date.accessioned2019-11-08T08:50:43Z
dc.date.available2019-11-08T08:50:43Z
dc.date.issued2014
dc.identifier.citationSawyer E., Roylance R., Petridis C., Brook M.N., Nowinski S., Papouli E., Fletcher O., Pinder S., Hanby A., Kohut K., Gorman P., Caneppele M., Peto J., dos Santos Silva I., Johnson N., Swann R., Dwek M., Perkins K.-A., Gillett C., Houlston R., Ross G., De Ieso P., Southey M.C., Hopper J.L., Provenzano E., Apicella C., Wesseling J., Cornelissen S., Keeman R., Fasching P.A., Jud S.M., Ekici A.B., Beckmann M.W., Kerin M.J., Marme F., Schneeweiss A., Sohn C., Burwinkel B., Gu�nel P., Truong T., Laurent-Puig P., Kerbrat P., Bojesen S.E., Nordestgaard B.G., Nielsen S.F., Flyger H., Milne R.L., Perez J.I.A., Men�ndez P., Benitez J., Brenner H., Dieffenbach A.K., Arndt V., Stegmaier C., Meindl A., Lichtner P., Schmutzler R.K., Lochmann M., Brauch H., Fischer H.-P., Ko Y.-D., Nevanlinna H., Muranen T.A., Aittom�ki K., Blomqvist C., Bogdanova N.V., D�rk T., Lindblom A., Margolin S., Mannermaa A., Kataja V., Kosma V.-M., Hartikainen J.M., Chenevix-Trench G., Lambrechts D., Weltens C., Van Limbergen E., Hatse S., Chang-Claude J., Rudolph A., Seibold P., Flesch-Janys D., Radice P., Peterlongo P., Bonanni B., Volorio S., Giles G.G., Severi G., Baglietto L., Mclean C.A., Haiman C.A., Henderson B.E., Schumacher F., Le Marchand L., Simard J., Goldberg M.S., Labr�che F., Dumont M., Kristensen V., Winqvist R., Pylk�s K., Jukkola-Vuorinen A., Kauppila S., Andrulis I.L., Knight J.A., Glendon G., Mulligan A.M., Devillee P., Tollenaar R.A.E.M., Seynaeve C.M., Kriege M., Figueroa J., Chanock S.J., Sherman M.E., Hooning M.J., Hollestelle A., van den Ouweland A.M.W., van Deurzen C.H.M., Li J., Czene K., Humphreys K., Cox A., Cross S.S., Reed M.W.R., Shah M., Jakubowska A., Lubinski J., Jaworska-Bieniek K., Durda K., Swerdlow A., Ashworth A., Orr N., Schoemaker M., Couch F.J., Hallberg E., Gonz�lez-Neira A., Pita G., Alonso M.R., Tessier D.C., Vincent D., Bacot F., Bolla M.K., Wang Q., Dennis J., Michailidou K., Dunning A.M., Hall P., Easton D., Pharoah P., Schmidt M.K., Tomlinson I., Garcia-Closas M. (2014). Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast. PLoS Genetics 10 (4) : e1004285. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pgen.1004285
dc.identifier.issn15537390
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/161952
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. ? 2014.
dc.sourceUnpaywall 20191101
dc.subjectestrogen receptor
dc.subjectADAM29 gene
dc.subjectarticle
dc.subjectbreast carcinoma
dc.subjectcancer susceptibility
dc.subjectcarcinoma in situ
dc.subjectCDCA7 gene
dc.subjectcontrolled study
dc.subjectDIRC3 gene
dc.subjectfemale
dc.subjectFGFR2 gene
dc.subjectgene locus
dc.subjectgenetic association
dc.subjectgenetic difference
dc.subjectgenetic predisposition
dc.subjectgenotype
dc.subjecthistopathology
dc.subjecthTERT gene
dc.subjecthuman
dc.subjecthuman cell
dc.subjectintraductal carcinoma
dc.subjectLGR6 gene
dc.subjectlobular carcinoma in situ
dc.subjectmajor clinical study
dc.subjectMAP3K1 gene
dc.subjectMLLT10 gene
dc.subjectoncogene
dc.subjectRAD51L1 gene
dc.subjectsingle nucleotide polymorphism
dc.subjectTERT gene
dc.subjectTOX3 gene
dc.subjecttumor invasion
dc.subjectZMIZ1 gene
dc.subjectZNF365 gene
dc.subjectbreast tumor
dc.subjectcarcinoma in situ
dc.subjectcase control study
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjectlung carcinoma
dc.subjectmeta analysis
dc.subjectmiddle aged
dc.subjectBreast Neoplasms
dc.subjectCarcinoma in Situ
dc.subjectCarcinoma, Lobular
dc.subjectCase-Control Studies
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectGenotype
dc.subjectHumans
dc.subjectMiddle Aged
dc.subjectPolymorphism, Single Nucleotide
dc.typeArticle
dc.contributor.departmentDEPT OF SURGERY
dc.description.doi10.1371/journal.pgen.1004285
dc.description.sourcetitlePLoS Genetics
dc.description.volume10
dc.description.issue4
dc.description.pagee1004285
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