Show simple item record

dc.contributor.authorJarhelle, Elisabeth
dc.contributor.authorStensland, Hilde Monica Frostad Riise
dc.contributor.authorHansen, Geir Åsmund Myge
dc.contributor.authorSkarsfjord, Siri
dc.contributor.authorJonsrud, Christoffer
dc.contributor.authorIngebrigtsen, Monica
dc.contributor.authorStrømsvik, Nina
dc.contributor.authorVan Ghelue, Marijke
dc.date.accessioned2020-01-28T08:12:41Z
dc.date.available2020-01-28T08:12:41Z
dc.date.issued2019-12-27
dc.description.abstractFamilies with breast and ovarian cancer are often tested for disease associated sequence variants in <i>BRCA1</i> and <i>BRCA2</i>. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in most families no PVs are detected in these two genes. Currently, several studies have identified other genes involved in hereditary breast and ovarian cancer (HBOC). To identify genetic risk factors for breast and ovarian cancer in a Norwegian HBOC cohort, 101 breast and/or ovarian cancer patients negative for PVs and variants of unknown clinical significance (VUS) in <i>BRCA1/2</i> were screened for PVs in 94 genes using next-generation sequencing. Sixteen genes were closely scrutinized. Nine different deleterious germline PVs/likely pathogenic variants (LPVs) were identified in seven genes in 12 patients: three in <i>ATM</i>, and one in <i>CHEK2, ERCC5, FANCM, RAD51C, TP53</i> and <i>WRN</i>. Additionally, 32 different VUSs were identified and these require further characterization. For carriers of PV/LPV in many of these genes, there are no national clinical management programs in Norway. The diversity of genetic risk factors possibly involved in cancer development show the necessity for more knowledge to improve the clinical follow-up of this genetically diverse patient group.en_US
dc.identifier.citationJarhelle E, Stensland HMFR, Hansen GÅM, Skarsfjord, Jonsrud C, Ingebrigtsen M, Strømsvik N, Van Ghelue GM. Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients. Scientific Reports. 2019;9(1)en_US
dc.identifier.cristinIDFRIDAID 1781756
dc.identifier.doi10.1038/s41598-019-55515-x
dc.identifier.issn2045-2322
dc.identifier.urihttps://hdl.handle.net/10037/17238
dc.language.isoengen_US
dc.publisherNature Researchen_US
dc.relation.journalScientific Reports
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2019 The Author(s)en_US
dc.subjectVDP::Medical disciplines: 700en_US
dc.subjectVDP::Medisinske Fag: 700en_US
dc.titleIdentifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patientsen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


File(s) in this item

Thumbnail

This item appears in the following collection(s)

Show simple item record