Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer
A total of 22.8% of the 167 variants that were observed in this study and which were previously classified as VUSs in a clinical setting were reclassified in this study. In total, 10.6% of the patients with a suspected predisposition to hereditary breast and/or ovarian cancer carried a likely pathogenic or pathogenic variant. The high incidence of VUSs observed in this study reflects the challenges faced in the daily clinical setting.
Authors
- Inge Søkilde Pedersen (ORCID: https://orcid.org/0000-0002-9902-8040)
- Qin Hao (ORCID: https://orcid.org/0000-0002-6775-2181)
- Thomas van Overeem Hansen (ORCID: https://orcid.org/0000-0003-4635-2653)
- Nanna Bæk Møller
- Andreas Münch (ORCID: https://orcid.org/0000-0003-4703-581X)
- Mark Burton (ORCID: https://orcid.org/0000-0002-3782-5933)
- Thorkild Terkelsen (ORCID: https://orcid.org/0000-0003-2435-1043)
- Elisabeth Simone Feldner
- Desirée Sofie Boonen (ORCID: https://orcid.org/0000-0002-2091-813X)
- Susanne E. Boonen (ORCID: https://orcid.org/0000-0002-7824-2080)
- Caroline Hey Bækgaard (ORCID: https://orcid.org/0009-0005-5852-5242)
- Martin J. Larsen (ORCID: https://orcid.org/0000-0003-4107-8771)
- Mads Thomassen (ORCID: https://orcid.org/0000-0003-0078-1217)
- Naja Slemming-Adamsen
Institutions
- University of Copenhagen (DK)
- University of Southern Denmark (DK)
- Aarhus University (DK)
- Aalborg University Hospital (DK)
- Odense University Hospital (DK)
- Aarhus University Hospital (DK)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- Aalborg University (DK)
Publication Details
- Journal
- Cancers
- Published
- 2025-05-29
- DOI
- https://doi.org/10.3390/cancers17111819
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kræftens Bekæmpelse
- Lunds Universitet
- Danmarks Frie Forskningsfond