Implementing mainstream germline genetic testing in breast cancer across Europe

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Authors: Eduard Pérez-Ballestero, Sagal Ahmed Shire, Mateja Krajc, Arvīds Irmejs, Lenka Foretová, Sophie Frank, Tiina Kahre, Thomas van Overeem Hansen, Koppert Linetta B., Anna Lena Burgemeister, Marc Tischkowitz, Judith Balmaña
+2 more Svetlana Bajalica-Lagercrantz, on behalf of ERN GENTURIS
Cited by: 1
References: 47

Abstract

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.

Fields of Study & Subjects

BRCA gene mutations in cancer Genomics and Rare Diseases Genetic factors in colorectal cancer

Publication details

Journal / source
BJC Reports
Publisher
Springer Science and Business Media LLC
Volume
4
Issue
1
Pages
3–3
Publication date
3 February 2026
Language
EN