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dc.contributor.authorHeramb, Cecilie
dc.contributor.authorEkstrøm, Per O
dc.contributor.authorTharmaratnam, Kukatharmini
dc.contributor.authorHovig, Eivind
dc.contributor.authorMøller, Pål
dc.contributor.authorMæhle, Lovise
dc.date.accessioned2015-10-20T12:50:44Z
dc.date.available2015-10-20T12:50:44Z
dc.date.issued2015
dc.identifier.citationHereditary Cancer in Clinical Practice. 2015 May 30;13(1):14
dc.identifier.urihttp://hdl.handle.net/10852/47526
dc.description.abstractBackground Common genetic variants have been shown to modify BRCA1 penetrance. The aim of this study was to validate these reports in a special cohort of Norwegian BRCA1 mutation carriers that were selected for their extreme age of onset of disease. Methods The ten variants rs13387042, rs3803662, rs8170, rs9397435, rs700518, rs10046, rs3834129, rs1045485, rs2363956 and rs16942 were selected to be tested on samples from our biobank. We selected female BRCA1 mutation carriers having had a diagnosis of breast or ovarian cancer below 40 years of age (young cancer group, N = 40), and mutation carriers having had neither breast nor ovarian cancer above 60 years of age (i.e., old no cancer group, N = 38). Relative risks and odd ratios of belonging to the young cancer versus old no cancer groups were calculated as a function of having or not having the SNPs in question. Results Five of the ten variants were found to be significantly associated with early onset cancer. Some of the variation between our results and those previously reported may be ascribed to stochastic effects in our limited number of patient studies, and/or genetic drift in linkage disequilibrium in the genetically isolated Norwegian population. This is in accordance with the understanding that the SNPs are markers in linkage disequilibrium with their respective disease-causing genetic variants, and that this may vary between different populations. Conclusions The results confirmed associations previously reported, with the notion that the degree of association may differ between other populations, which must be considered when discussing the clinical use of the associations described.
dc.language.isoeng
dc.relation.ispartofHeramb, Cecilie (2018) Hereditary breast cancer in South-Eastern Norway BRCA1/2- testing of breast cancer patients. Mutation spectrum and potential modifiers in Norwegian BRCA1/2 carriers. Doctoral thesis. http://hdl.handle.net/10852/65616
dc.relation.urihttp://hdl.handle.net/10852/65616
dc.rightsHeramb et al; licensee BioMed Central Ltd.
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleTen modifiers of BRCA1 penetrance validated in a Norwegian series
dc.typeJournal article
dc.date.updated2015-10-20T12:50:44Z
dc.creator.authorHeramb, Cecilie
dc.creator.authorEkstrøm, Per O
dc.creator.authorTharmaratnam, Kukatharmini
dc.creator.authorHovig, Eivind
dc.creator.authorMøller, Pål
dc.creator.authorMæhle, Lovise
dc.identifier.doihttp://dx.doi.org/10.1186/s13053-015-0035-0
dc.identifier.urnURN:NBN:no-51585
dc.type.documentTidsskriftartikkel
dc.type.peerreviewedPeer reviewed
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/47526/1/13053_2015_Article_35.pdf
dc.type.versionPublishedVersion
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