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dc.contributor.authorCampa, Danieleen_US
dc.contributor.authorBarrdahl, Myrtoen_US
dc.contributor.authorGaudet, Mia M.en_US
dc.contributor.authorBlack, Amandaen_US
dc.contributor.authorChanock, Stephen J.en_US
dc.contributor.authorDiver, W. Ryanen_US
dc.contributor.authorGapstur, Susan M.en_US
dc.contributor.authorHaiman, Christopheren_US
dc.contributor.authorHankinson, Susanen_US
dc.contributor.authorHazra, Aditien_US
dc.contributor.authorHenderson, Brianen_US
dc.contributor.authorHoover, Robert N.en_US
dc.contributor.authorHunter, David J.en_US
dc.contributor.authorJoshi, Amit D.en_US
dc.contributor.authorKraft, Peteren_US
dc.contributor.authorLe Marchand, Loicen_US
dc.contributor.authorLindström, Saraen_US
dc.contributor.authorWillett, Walteren_US
dc.contributor.authorTravis, Ruth C.en_US
dc.contributor.authorAmiano, Pilaren_US
dc.contributor.authorSiddiq, Afshanen_US
dc.contributor.authorTrichopoulos, Dimitriosen_US
dc.contributor.authorSund, Malinen_US
dc.contributor.authorTjønneland, Anneen_US
dc.contributor.authorWeiderpass, Elisabeteen_US
dc.contributor.authorPeeters, Petra H.en_US
dc.contributor.authorPanico, Salvatoreen_US
dc.contributor.authorDossus, Laureen_US
dc.contributor.authorZiegler, Regina G.en_US
dc.contributor.authorCanzian, Federicoen_US
dc.contributor.authorKaaks, Rudolfen_US
dc.date.accessioned2015-08-03T13:59:36Z
dc.date.issued2015en_US
dc.identifier.citationCampa, D., M. Barrdahl, M. M. Gaudet, A. Black, S. J. Chanock, W. R. Diver, S. M. Gapstur, et al. 2015. “Genetic risk variants associated with in situ breast cancer.” Breast Cancer Research : BCR 17 (1): 82. doi:10.1186/s13058-015-0596-x. http://dx.doi.org/10.1186/s13058-015-0596-x.en
dc.identifier.issn1465-5411en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:17820690
dc.description.abstractIntroduction: Breast cancer in situ (BCIS) diagnoses, a precursor lesion for invasive breast cancer, comprise about 20 % of all breast cancers (BC) in countries with screening programs. Family history of BC is considered one of the strongest risk factors for BCIS. Methods: To evaluate the association of BC susceptibility loci with BCIS risk, we genotyped 39 single nucleotide polymorphisms (SNPs), associated with risk of invasive BC, in 1317 BCIS cases, 10,645 invasive BC cases, and 14,006 healthy controls in the National Cancer Institute’s Breast and Prostate Cancer Cohort Consortium (BPC3). Using unconditional logistic regression models adjusted for age and study, we estimated the association of SNPs with BCIS using two different comparison groups: healthy controls and invasive BC subjects to investigate whether BCIS and BC share a common genetic profile. Results: We found that five SNPs (CDKN2BAS-rs1011970, FGFR2-rs3750817, FGFR2-rs2981582, TNRC9-rs3803662, 5p12-rs10941679) were significantly associated with BCIS risk (P value adjusted for multiple comparisons <0.0016). Comparing invasive BC and BCIS, the largest difference was for CDKN2BAS-rs1011970, which showed a positive association with BCIS (OR = 1.24, 95 % CI: 1.11–1.38, P = 1.27 x 10−4) and no association with invasive BC (OR = 1.03, 95 % CI: 0.99–1.07, P = 0.06), with a P value for case-case comparison of 0.006. Subgroup analyses investigating associations with ductal carcinoma in situ (DCIS) found similar associations, albeit less significant (OR = 1.25, 95 % CI: 1.09–1.42, P = 1.07 x 10−3). Additional risk analyses showed significant associations with invasive disease at the 0.05 level for 28 of the alleles and the OR estimates were consistent with those reported by other studies. Conclusions: Our study adds to the knowledge that several of the known BC susceptibility loci are risk factors for both BCIS and invasive BC, with the possible exception of rs1011970, a putatively functional SNP situated in the CDKN2BAS gene that may be a specific BCIS susceptibility locus. Electronic supplementary material The online version of this article (doi:10.1186/s13058-015-0596-x) contains supplementary material, which is available to authorized users.en
dc.language.isoen_USen
dc.publisherBioMed Centralen
dc.relation.isversionofdoi:10.1186/s13058-015-0596-xen
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487950/pdf/en
dash.licenseLAAen_US
dc.titleGenetic risk variants associated with in situ breast canceren
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalBreast Cancer Research : BCRen
dash.depositing.authorHankinson, Susanen_US
dc.date.available2015-08-03T13:59:36Z
dc.identifier.doi10.1186/s13058-015-0596-x*
dash.authorsorderedfalse
dash.contributor.affiliatedJoshi, Amit
dash.contributor.affiliatedHankinson, Susan
dash.contributor.affiliatedKraft, Phillip
dash.contributor.affiliatedWillett, Walter
dash.contributor.affiliatedHunter, David


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