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dc.contributor.authorCampa, Daniele
dc.contributor.authorBarrdahl, Myrto
dc.contributor.authorGaudet, Mia M.
dc.contributor.authorBlack, Amanda
dc.contributor.authorChanock, Stephen J.
dc.contributor.authorDiver, W. Stephen
dc.contributor.authorGapstur, Susan M.
dc.contributor.authorHaiman, Christopher
dc.contributor.authorHankinson, Susan
dc.contributor.authorHazra, Aditi
dc.contributor.authorHenderson, Brian
dc.contributor.authorHoover, Robert N.
dc.contributor.authorHunter, David J.
dc.contributor.authorJoshi, Amit
dc.contributor.authorKraft, Peter
dc.contributor.authorLe Marchand, Loic
dc.contributor.authorLindström, Sara
dc.contributor.authorWillett, Walter
dc.contributor.authorTravis, Ruth C.
dc.contributor.authorAmiano, Pilar
dc.contributor.authorSiddiq, Afshan
dc.contributor.authorTrichopoulos, Dimitrios
dc.contributor.authorSund, Malin
dc.contributor.authorTjønneland, Anne
dc.contributor.authorWeiderpass, Elisabete
dc.contributor.authorPeeters, Petra H.
dc.contributor.authorPanico, Salvatore
dc.contributor.authorDossus, Laure
dc.contributor.authorZiegler, Regina G.
dc.contributor.authorCanzian, Federico
dc.contributor.authorKaaks, Rudolf
dc.date.accessioned2021-11-10T09:22:25Z
dc.date.available2021-11-10T09:22:25Z
dc.date.issued2015-06-13
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.<p><p>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.<p> <p>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<sup>−4</sup> ) 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<sup>−3</sup> ). 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.<p> 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.en_US
dc.identifier.citationCampa D, Barrdahl M, Gaudet MM, Black A, Chanock SJ, Diver, Gapstur SM, Haiman, Hankinson, Hazra A, Henderson B, Hoover RN, Hunter DJ, Joshi A, Kraft P, Le Marchand L, Lindström S, Willett, Travis RC, Amiano P, Siddiq A, Trichopoulos D, Sund M, Tjønneland A, Weiderpass E, Peeters PH, Panico S, Dossus L, Ziegler RG, Canzian F, Kaaks R. Genetic risk variants associated with in situ breast cancer. Breast Cancer Research. 2015;17:82en_US
dc.identifier.cristinIDFRIDAID 1259473
dc.identifier.doi10.1186/s13058-015-0596-x
dc.identifier.issn1465-5411
dc.identifier.issn1465-542X
dc.identifier.urihttps://hdl.handle.net/10037/22964
dc.language.isoengen_US
dc.publisherBioMed Centralen_US
dc.relation.journalBreast Cancer Research
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2015 The Author(s)en_US
dc.subjectVDP::Medical disciplines: 700::Health sciences: 800::Community medicine, Social medicine: 801en_US
dc.subjectVDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin, sosialmedisin: 801en_US
dc.titleGenetic risk variants associated with in situ breast canceren_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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