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dc.contributor.authorHorne HN
dc.contributor.authorChung CC
dc.contributor.authorZhang H
dc.contributor.authorYu K
dc.contributor.authorProkunina-Olsson L
dc.contributor.authorMichailidou K
dc.contributor.authorBolla MK
dc.contributor.authorWang Q
dc.contributor.authorDennis J
dc.contributor.authorHopper JL
dc.contributor.authorSouthey MC
dc.contributor.authorSchmidt MK
dc.contributor.authorBroeks A
dc.contributor.authorMuir K
dc.contributor.authorLophatananon A
dc.contributor.authorFasching PA
dc.contributor.authorBeckmann MW
dc.contributor.authorFletcher O
dc.contributor.authorJohnson N
dc.contributor.authorSawyer EJ
dc.contributor.authorTomlinson I et al. (Incl. Kosma Veli-Matti
dc.contributor.authorMannermaa Arto)
dc.date.accessioned2018-02-26T09:09:06Z
dc.date.available2018-02-26T09:09:06Z
dc.date.issued2016
dc.identifier.urihttps://erepo.uef.fi/handle/123456789/6157
dc.description.abstractThe Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, we genotyped 92 SNPs in a 900kb region (120,505,799–121,481,132) flanking rs11249433 in 45,276 breast cancer cases and 48,998 controls of European, Asian and African ancestry from 50 studies in the Breast Cancer Association Consortium. Genotyping was done using iCOGS, a custom-built array. Due to the complicated nature of the region on chr1p11.2: 120,300,000–120,505,798, that lies near the centromere and contains seven duplicated genomic segments, we restricted analyses to 429 SNPs excluding the duplicated regions (42 genotyped and 387 imputed). Per-allelic associations with breast cancer risk were estimated using logistic regression models adjusting for study and ancestry-specific principal components. The strongest association observed 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 heterogeneity P≤8.41 x 10-5). Additional analyses by other tumor characteristics showed stronger associations with moderately/well differentiated tumors and tumors of lobular histology. Although no significant eQTL associations were observed, in silico analyses showed 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 region to be limited to risk to cancers that are ER-positive.en
dc.language.isoENen
dc.publisherPublic Library of Science (PLoS)en
dc.relation.ispartofseriesPLOS ONEen
dc.relation.urihttp://dx.doi.org/10.1371/journal.pone.0160316en
dc.rightsCC0 1.0 https://creativecommons.org/publicdomain/zero/1.0/en
dc.titleFine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locusen
dc.description.versionpublished versionen
dc.contributor.departmentSchool of Medicine / Clinical Medicineen
uef.solecris.id44075928en
dc.type.publicationinfo:eu-repo/semantics/articleen
dc.rights.accessrights© Authorsen
dc.relation.doi10.1371/journal.pone.0160316en
dc.description.reviewstatuspeerRevieweden
dc.relation.articlenumbere0160316en
dc.relation.issn1932-6203en
dc.relation.issue8en
dc.relation.volume11en
dc.rights.accesslevelopenAccessen
dc.type.okmA1en
dc.type.versioninfo:eu-repo/semantics/publishedVersionen
uef.solecris.openaccessOpen access -julkaisukanavassa ilmestynyt julkaisu


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