Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000
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 BRC...
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| Language: | English |
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Medical Journals Sweden
2025-01-01
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| Series: | Acta Oncologica |
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| Online Access: | https://medicaljournalssweden.se/actaoncologica/article/view/42418 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Aleksandar M. Kostov |
| collection | DOAJ |
| description | 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.
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| format | Article |
| id | doaj-art-f43c77f1b97f4c95b05295e2a1592287 |
| institution | Kabale University |
| issn | 1651-226X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Medical Journals Sweden |
| record_format | Article |
| series | Acta Oncologica |
| spelling | doaj-art-f43c77f1b97f4c95b05295e2a15922872025-01-29T07:55:52ZengMedical Journals SwedenActa Oncologica1651-226X2025-01-016410.2340/1651-226X.2025.42418Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000Aleksandar M. Kostov0https://orcid.org/0009-0008-5034-8597Maj-Britt Jensen1https://orcid.org/0000-0001-5348-3040Bent Ejlertsen2https://orcid.org/0000-0001-8761-714XMads Thomassen3Caroline Maria Rossing4https://orcid.org/0000-0003-4325-3027Inge S. Pedersen5https://orcid.org/0000-0002-9902-8040Annabeth H. Petersen6https://orcid.org/0000-0002-4503-6942Lise Lotte Christensen7https://orcid.org/0000-0001-5622-3068Karin A.W. Wadt8https://orcid.org/0000-0003-2882-6798Anne-Vibeke Lænkholm9https://orcid.org/0000-0003-2166-8686Department of Surgical Pathology, Zealand University Hospital, Roskilde, DenmarkDanish Breast Cancer Group, Department of Oncology, Copenhagen University Hospital, Rigshospitalet, DenmarkDanish Breast Cancer Group, Department of Oncology, Copenhagen University Hospital, Rigshospitalet, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DenmarkDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark; Clinical Genome Center, University of Southern Denmark and Region of Southern Denmark, Odense, DenmarkDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark; Department of Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark Department of Clinical Medicine, Aalborg University, Aalborg, Denmark; Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, DenmarkDepartment of Clinical Genetics, Vejle Hospital, University Hospital of Southern Denmark, DenmarkDepartment of Molecular Medicine (MOMA), Aarhus University Hospital, Aarhus, DenmarkDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, DenmarkDepartment of Surgical Pathology, Zealand University Hospital, Roskilde, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DenmarkBackground 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. https://medicaljournalssweden.se/actaoncologica/article/view/42418Genetic testinghereditary breast cancerpathogenic germline variantsDanish Breast Cancer Group |
| spellingShingle | 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 Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 Acta Oncologica Genetic testing hereditary breast cancer pathogenic germline variants Danish Breast Cancer Group |
| title | Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 |
| title_full | Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 |
| title_fullStr | Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 |
| title_full_unstemmed | Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 |
| title_short | Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 |
| title_sort | germline brca testing in denmark following invasive breast cancer progress since 2000 |
| topic | Genetic testing hereditary breast cancer pathogenic germline variants Danish Breast Cancer Group |
| url | https://medicaljournalssweden.se/actaoncologica/article/view/42418 |
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