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dc.contributor.authorJarhelle, Elisabeth
dc.contributor.authorStensland, Hilde Monica Frostad Riise
dc.contributor.authorMæhle, Lovise Olaug
dc.contributor.authorVan Ghelue, Marijke
dc.date.accessioned2017-03-11T11:09:52Z
dc.date.available2017-03-11T11:09:52Z
dc.date.issued2016-08-05
dc.description.abstractGermline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family history of breast or ovarian cancer has revealed pathogenic variants as well as genetic variants of unknown significance (VUS). These VUS may cause a challenge in the genetic counseling process regarding clinical management of the patient and the family. We investigated 32 variants previously detected in 33 samples from patients with a family history of breast or ovarian cancer. cDNA was analyzed for alternative transcripts and selected missense variants located in the BRCT domains of BRCA1 were assessed for their trans-activation ability. Although an extensive cDNA analysis was done, only three of the 32 variants appeared to affect the splice-process (BRCA1 c.213-5T>A, BRCA1 c.5434C>G and BRCA2 c.68-7T>A). In addition, two variants located in the BRCT domains of BRCA1 (c.5075A>C p.Asp1692Ala and c.5513T>G p.Val1838Gly) were shown to abolish the BRCT domain trans-activation ability, whereas BRCA1 c.5125G>A p.Gly1709Arg exhibited equal trans-activation capability as the WT domain. These functional studies may offer further insights into the pathogenicity of certain identified variants; however, this assay is only applicable for a subset of missense variants.en_US
dc.description.sponsorshipHelse Nord: Grant # SFP1161-14en_US
dc.descriptionManuscript. Published version available in <a href=http://dx.doi.org/10.1007/s10689-016-9916-2>Familial Cancer, Jan. 2017, vol. 16, issue 1, pp 1–16</a>en_US
dc.identifier.citationJarhelle, E., Riise Stensland, H.M.F., Mæhle, L. et al. Familial Cancer (2017) 16: 1. doi:10.1007/s10689-016-9916-2en_US
dc.identifier.cristinIDFRIDAID 1383790
dc.identifier.doi10.1007/s10689-016-9916-2
dc.identifier.issn1389-9600
dc.identifier.issn1573-7292
dc.identifier.urihttps://hdl.handle.net/10037/10579
dc.language.isoengen_US
dc.publisherSpringeren_US
dc.relation.journalFamilial Cancer
dc.rights.accessRightsopenAccessen_US
dc.subjectVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Onkologi: 762en_US
dc.subjectVDP::Medical disciplines: 700::Clinical medical disciplines: 750::Oncology: 762en_US
dc.titleCharacterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohorten_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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