Implementing mainstream germline genetic testing in breast cancer across Europe
The implementation of mainstream germline genetic testing in breast cancer patients has both benefits and challenges. Multiple aspects need to be considered for the outline of gene panels and the amount of pre-test genetic counselling. Mainstream genetic testing is mainly performed to stratify patients for targeted treatment. In addition, identification of germline pathogenic variants in cancer risk genes may have surgical implications, consequences for surveillance of other organs at risk of cancer, as well as family implications among relatives at risk. To ensure that patients are well informed, the introduction of mainstream genetic testing performed by non-genetic health care specialists requires an adapted pre-test counselling visit. Here, we review the literature and propose a web-based educational session and pocket guide to support implementation of mainstream testing in oncology practice.
Authors
- Sophie Frank (ORCID: https://orcid.org/0000-0002-5730-8992)
- van Overeem Hansen T
- Tiina Kahre (ORCID: https://orcid.org/0009-0007-4399-354X)
- Arvīds Irmejs (ORCID: https://orcid.org/0000-0002-0538-1194)
- Koppert Linetta B.
- Anna Lena Burgemeister
- Mateja Krajc
- Eduard Pérez-Ballestero
- on behalf of ERN GENTURIS
- Judith Balmaña
- Lenka Foretová
- Marc Tischkowitz
- Sagal Ahmed Shire
Institutions
- Hebron University (PS)
- Karolinska University Hospital (SE)
- University of Cambridge (GB)
- Erasmus MC (NL)
- Tartu University Hospital (EE)
- Copenhagen University Hospital (DK)
- Institute of Oncology Ljubljana (SI)
- National Institute for Health and Care Research (GB)
- Pauls Stradiņš Clinical University Hospital (LV)
- Vall d'Hebron Institut de Recerca (ES)
- St George's Hospital (GB)
- Masaryk Memorial Cancer Institute (CZ)
- Medical Genetics Center (DE)
- Vall d'Hebron Hospital Universitari (ES)
- Institut Curie (FR)
Publication Details
- Journal
- BJC Reports
- Published
- 2026-02-03
- DOI
- https://doi.org/10.1038/s44276-025-00202-w
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Aarhus Universitetshospital
- European Commission
- Universiteit Leiden
- Radboud Universiteit
- Erasmus Medisch Centrum
- Universitair Ziekenhuis Gent
- Karolinska Institutet
- Universiteit Gent
- Leids Universitair Medisch Centrum
- Universitair Medisch Centrum Groningen
- Rigshospitalet
- Radboud Universitair Medisch Centrum
- Pomorski Uniwersytet Medyczny W Szczecinie
- Pécsi Tudományegyetem
- Medizinische Universität Innsbruck
- Haukeland Universitetssjukehus
- Centre hospitalier universitaire Sainte-Justine
- Universität Innsbruck
- Universitätsklinikum Erlangen
- Universitätsklinikum Hamburg-Eppendorf
- Third Health Programme