Academic Journal
Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000: Progress since 2000
| Τίτλος: | Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000: Progress since 2000 |
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| Συγγραφείς: | Aleksandar M. Kostov, Maj-Britt Jensen, Bent Ejlertsen, Mads Thomassen, Caroline Maria Rossing, Inge S. Pedersen, Annabeth H. Petersen, Lise Lotte Christensen, Karin A.W. Wadt, Anne-Vibeke Lænkholm |
| Πηγή: | Acta Oncol Acta Oncologica, Vol 64 (2025) Kostov, A M, Jensen, M-B, Ejlertsen, B, Thomassen, M, Rossing, C M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A-V 2025, 'Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000', Acta Oncologica, vol. 64, pp. 147-155. https://doi.org/10.2340/1651-226X.2025.42418 Kostov, A M, Jensen, M B, Ejlertsen, B, Thomassen, M, Rossing, M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A V 2025, ' Germline BRCA testing in Denmark following invasive breast cancer : Progress since 2000 ', Acta Oncologica, vol. 64, pp. 147-155 . https://doi.org/10.2340/1651-226X.2025.42418 Kostov, A M, Jensen, M B, Ejlertsen, B, Thomassen, M, Rossing, M, Pedersen, I S, Petersen, A H, Christensen, L L, Wadt, K A W & Lænkholm, A V 2025, 'Germline BRCA testing in Denmark following invasive breast cancer : Progress since 2000', Acta Oncologica, vol. 64, pp. 147-155. https://doi.org/10.2340/1651-226X.2025.42418 |
| Στοιχεία εκδότη: | MJS Publishing, Medical Journals Sweden AB, 2025. |
| Έτος έκδοσης: | 2025 |
| Θεματικοί όροι: | Adult, Genetic testing, Genetic Testing/statistics & numerical data, Denmark, Breast Neoplasms, Breast Neoplasms/genetics, Cohort Studies, Danish Breast Cancer Group, Original Report, Humans, Genetic Predisposition to Disease, Genetic Testing, pathogenic variants, RC254-282, Germ-Line Mutation, Aged, BRCA2 Protein, pathogenic germline variants, BRCA1 Protein, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, hereditary breast cancer, Middle Aged, BRCA2 Protein/genetics, Denmark/epidemiology, BRCA1 Protein/genetics, Female |
| Περιγραφή: | Background and purpose: Despite advancements in genetic testing and expanded eligibility criteria, underutilisation of germline testing for pathogenic variants in BRCA1 and BRCA2 (BRCA) remains evident among breast cancer (BC) patients. This observational cohort study presents real-world data on BRCA testing within the context of clinical practice challenges, including incomplete family history and under-referral. Material and methods: From the Danish Breast Cancer Group (DBCG) clinical database, we included 65,117 females with unilateral stage I–III BC diagnosed in 2000–2017, of whom 9,125 (14%) were BRCA tested. Test results spanned from 1999 to 2021. We evaluated test rates overall and in three diagnosis periods. In logistic regression models, we examined the correlation between a BRCA test and patients’ age, residency region, receptor status, and diagnosis period. Results: Test rates rose most significantly among patients aged under 40 years, increasing from 47% (2000–2005) to 88% (2012–2017), albeit with regional discrepancies. Test timing shifted in recent years, with most results within 6 months of BC diagnosis, primarily among the youngest patients. BRCA test rates were higher for oestrogen receptor-negative/human epidermal growth factor receptor 2-negative BC (25% in 2000–2005 vs. 38% in 2012–2017), and these findings were confirmed in multivariate regression models. Interpretation: Our results indicate a critical need for an intensified focus on BRCA testing among BC patients older than 40, where a mainstreamed testing approach might overcome delayed or missed testing. Current DBCG guidelines recommend BRCA testing of all BC patients younger than 50 years, while a general recommendation for older patients is still missing. |
| Τύπος εγγράφου: | Article Other literature type |
| Περιγραφή αρχείου: | application/pdf |
| ISSN: | 1651-226X |
| DOI: | 10.2340/1651-226x.2025.42418 |
| Σύνδεσμος πρόσβασης: | https://pubmed.ncbi.nlm.nih.gov/39876688 https://doaj.org/article/f43c77f1b97f4c95b05295e2a1592287 https://vbn.aau.dk/da/publications/1757f2c4-56f0-46e1-b62f-b46b76b4f55c https://vbn.aau.dk/ws/files/768168423/Kostov_et_al._2025_._Germline_BRCA_testing_in_Denmark_following_invasive_breast_cancer_-_Progress_since_2000.pdf https://doi.org/10.2340/1651-226X.2025.42418 http://www.scopus.com/inward/record.url?scp=85217274327&partnerID=8YFLogxK https://curis.ku.dk/ws/files/429889023/AO42418.pdf https://portal.findresearcher.sdu.dk/da/publications/b8e7a120-5a06-4151-9187-8527f0f04dce https://doi.org/10.2340/1651-226X.2025.42418 https://pure.au.dk/portal/en/publications/9c3def68-eea6-4ced-b66f-f46df5725f9c https://doi.org/10.2340/1651-226X.2025.42418 http://www.scopus.com/inward/record.url?scp=85217274327&partnerID=8YFLogxK |
| Rights: | CC BY URL: http://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/ (http://creativecommons.org/licenses/by/4.0/) ). |
| Αριθμός Καταχώρησης: | edsair.doi.dedup.....e78b1d3b7636b59d6e80e531d25be5ea |
| Βάση Δεδομένων: | OpenAIRE |
| ISSN: | 1651226X |
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| DOI: | 10.2340/1651-226x.2025.42418 |