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dc.contributor.authorGansmo, Liv Beathe
dc.contributor.authorSofiyeva, Nigar
dc.contributor.authorBjørnslett, Merete Pauline
dc.contributor.authorRomundstad, Pål Richard
dc.contributor.authorHveem, Kristian
dc.contributor.authorVatten, Lars Johan
dc.contributor.authorDørum, Anne
dc.contributor.authorLønning, Per Eystein
dc.contributor.authorKnappskog, Stian
dc.description.abstractA germline 29.5-kb deletion variant removes the 3’ end of the APOBEC3A gene and a large part of APOBEC3B, creating a hybrid gene that has been linked to increased APOBEC3 activity and DNA damage in human cancers. We genotyped the APOBEC3A/B deletion in hospital-based samples of 1398 Norwegian epithelial ovarian cancer patients without detected BRCA1/2 germline mutations and compared to 1,918 healthy female controls, to assess the potential cancer risk associated with the deletion. We observed an association between APOBEC3A/B status and reduced risk for ovarian cancer (OR = 0.75; CI = 0.61–0.91; p = 0.003) applying the dominant model. Similar results were found in other models. The association was observed both in non-serous and serous cases (dominant model: OR = 0.69; CI = 0.50–0.95; p = 0.018 and OR = 0.77; CI = 0.62–0.96; p = 0.019, respectively) as well as within high-grade serous cases (dominant model: OR = 0.79; CI = 0.59–1.05). For validation purposes, we mined an available large multinational GWAS-based data set of > 18,000 cases and > 26,000 controls for SNP rs12628403, known to be in linkage disequilibrium with the APOBEC3A/B deletion. We found a non-significant trend for SNP rs12628403 being linked to reduced risk of ovarian cancer in general and similar trends for all subtypes. For clear cell cancers, the risk reduction reached significance (OR = 0.85; CI = 0.69–1.00).en_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.titleImpact of the APOBEC3A/B deletion polymorphism on risk of ovarian canceren_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.rights.holderCopyright 2021 The Author(s)en_US
dc.source.journalScientific Reportsen_US
dc.identifier.citationScientific Reports. 2021, 11, 23463.en_US

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