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dc.contributor.authorGrindedal, Eli Marie
dc.contributor.authorHeramb, Cecilie
dc.contributor.authorKarsrud, Inga
dc.contributor.authorAriansen, Sarah Louise
dc.contributor.authorMæhle, Lovise Olaug
dc.contributor.authorUndlien, Dag Erik
dc.contributor.authorNorum, Jan
dc.contributor.authorSchlichting, Ellen
dc.date.accessioned2018-02-14T09:21:43Z
dc.date.available2018-02-14T09:21:43Z
dc.date.issued2017-06-21
dc.description.abstractBackground: <br> Identification of BRCA mutations in breast cancer (BC) patients influences treatment and survival and may be of importance for their relatives. Testing is often restricted to women fulfilling high-risk criteria. However, there is limited knowledge of the sensitivity of such a strategy, and of the clinical aspects of BC caused by BRCA mutations in less selected BC cohorts. The aim of this report was to address these issues by evaluating the results of BRCA testing of BC patients in South-Eastern Norway. <br> Methods: <br> 1371 newly diagnosed BC patients were tested with sequencing and Multi Ligation Probe Amplification (MLPA). Prevalence of mutations was calculated, and BC characteristics among carriers and non-carriers compared. Sensitivity and specificity of common guidelines for BRCA testing to identify carriers was analyzed. Number of identified female mutation positive relatives was evaluated. <br> Results: <br> A pathogenic BRCA mutation was identified in 3.1%. Carriers differed from non-carriers in terms of age at diagnosis, family history, grade, ER/PR-status, triple negativity (TNBC) and Ki67, but not in HER2 and TNM status. One mutation positive female relative was identified per mutation positive BC patient. Using age of onset below 40 or TNBC as criteria for testing identified 32-34% of carriers. Common guidelines for testing identified 45-90%, and testing all below 60 years identified 90%. Thirty-seven percent of carriers had a family history of cancer that would have qualified for predictive BRCA testing. A Variant of Uncertain Significance (VUS) was identified in 4.9%. <br> Conclusions: <br> Mutation positive BC patients differed as a group from mutation negative. However, the commonly used guidelines for testing were insufficient to detect all mutation carriers in the BC cohort. Thirty-seven percent had a family history of cancer that would have qualified for predictive testing before they were diagnosed with BC. Based on our combined observations, we suggest it is time to discuss whether all BC patients should be offered BRCA testing, both to optimize treatment and improve survival for these women, but also to enable identification of healthy mutation carriers within their families. Health services need to be aware of referral possibility for healthy women with cancer in their family.en_US
dc.descriptionSource at: <a href=https://doi.org/10.1186/s12885-017-3422-2> https://doi.org/10.1186/s12885-017-3422-2 </a>en_US
dc.identifier.citationGrindedal, E., M., Heramb, C., Karsrud, I., Ariansen, S. L., Mæhle, L., Undlien, D. E., Norum, J. & Schlichting, E. (2017). Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. BMC Cancer, 17(438), 1-13. https://doi.org/10.1186/s12885-017-3422-2en_US
dc.identifier.cristinIDFRIDAID 1501511
dc.identifier.doi10.1186/s12885-017-3422-2
dc.identifier.issn1471-2407
dc.identifier.urihttps://hdl.handle.net/10037/12161
dc.language.isoengen_US
dc.publisherBioMed Centralen_US
dc.relation.journalBMC 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.titleCurrent guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriersen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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