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dc.contributor.authorStefansdottir, V
dc.contributor.authorSkirton, H
dc.contributor.authorJohannsson, O Th
dc.contributor.authorOlafsdottir, H
dc.contributor.authorOlafsdottir, G H
dc.contributor.authorTryggvadottir, L
dc.contributor.authorJonsson, J J
dc.date.accessioned2019-06-04T14:13:12Z
dc.date.available2019-06-04T14:13:12Z
dc.date.issued2019-04
dc.date.submitted2019-06
dc.identifier.citationElectronically ascertained extended pedigrees in breast cancer genetic counseling. 2109, 18(2):153-160 Fam Canceren_US
dc.identifier.issn1573-7292
dc.identifier.pmid30251169
dc.identifier.doi10.1007/s10689-018-0105-3
dc.identifier.urihttp://hdl.handle.net/2336/620927
dc.descriptionTo access publisher's full text version of this article click on the hyperlink belowen_US
dc.description.abstractA comprehensive pedigree, usually provided by the counselee and verified by medical records, is essential for risk assessment in cancer genetic counseling. Collecting the relevant information is time-consuming and sometimes impossible. We studied the use of electronically ascertained pedigrees (EGP). The study group comprised women (n = 1352) receiving HBOC genetic counseling between December 2006 and December 2016 at Landspitali in Iceland. EGP's were ascertained using information from the population-based Genealogy Database and Icelandic Cancer Registry. The likelihood of being positive for the Icelandic founder BRCA2 pathogenic variant NM_000059.3:c.767_771delCAAAT was calculated using the risk assessment program Boadicea. We used this unique data to estimate the optimal size of pedigrees, e.g., those that best balance the accuracy of risk assessment using Boadicea and cost of ascertainment. Sub-groups of randomly selected 104 positive and 105 negative women for the founder BRCA2 PV were formed and Receiver Operating Characteristics curves compared for efficiency of PV prediction with a Boadicea score. The optimal pedigree size included 3° relatives or up to five generations with an average no. of 53.8 individuals (range 9-220) (AUC 0.801). Adding 4° relatives did not improve the outcome. Pedigrees including 3° relatives are difficult and sometimes impossible to generate with conventional methods. Pedigrees ascertained with data from pre-existing genealogy databases and cancer registries can save effort and contain more information than traditional pedigrees. Genetic services should consider generating EGP's which requires access to an accurate genealogy database and cancer registry. Local data protection laws and regulations have to be addressed.en_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.urlhttps://link.springer.com/article/10.1007/s10689-018-0105-3en_US
dc.subjectBRCA2en_US
dc.subjectBreast canceren_US
dc.subjectCancer genetic counselingen_US
dc.subjectElectronically generated pedigreesen_US
dc.subjectGenealogy databaseen_US
dc.subjectBrjóstakrabbameinen_US
dc.subjectGenen_US
dc.subjectErfðafræðien_US
dc.subjectErfðaráðgjöfen_US
dc.subjectÆttartölen_US
dc.subject.meshBreast Neoplasmsen_US
dc.subject.meshGenetic Counselingen_US
dc.subject.meshPedigreeen_US
dc.titleElectronically ascertained extended pedigrees in breast cancer genetic counseling.en_US
dc.typeArticleen_US
dc.contributor.department1 Department of Genetics and Molecular Medicine, Landspitali - National University Hospital, Hringbraut, 101, Reykjavik, Iceland. 2 Department of Biochemistry and Molecular Biology, Univ. of Iceland, Reykjavik, Iceland. 3 Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK. 4 Department Of Medical Oncology, Landspitali - National University Hospital, Reykjavik, Iceland. 5 Icelandic Cancer Registry, Icelandic Cancer Society, Reykjavik, Iceland. 6 Faculty of Medicine, Univ. of Iceland, Reykjavik, Iceland. 7 Department of Genetics and Molecular Medicine, Landspitali - National University Hospital, Hringbraut, 101, Reykjavik, Iceland. jonjj@hi.is. 8 Department of Biochemistry and Molecular Biology, Univ. of Iceland, Reykjavik, Iceland. jonjj@hi.is. 9 Genetical Committee of the University of Iceland, Reykjavik, Iceland. jonjj@hi.is.en_US
dc.identifier.journalFamilial Canceren_US
dc.rights.accessNational Consortium - Landsaðganguren_US
dc.departmentcodeNAF12
dc.departmentcodeMAO12
dc.source.journaltitleFamilial cancer


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