Implementing mainstream germline genetic testing in breast cancer across Europe

Eduard Pérez-Ballestero; Sagal Ahmed Shire; Mateja Krajc; ERN GENTURIS; Arvīds Irmejs; Lenka Foretová; Sophie Frank; Tiina Kahre; Thomas van Overeem Hansen; Linetta Koppert; Anna Lena Burgemeister; Marc Tischkowitz; Judith Balmaña; Svetlana Bajalica-Lagercrantz

doi:10.1038/s44276-025-00202-w

Implementing mainstream germline genetic testing in breast cancer across Europe

Eduard Pérez-Ballestero
, Sagal Ahmed Shire
, Mateja Krajc
, ERN GENTURIS
, Arvīds Irmejs
, Lenka Foretová
, Sophie Frank
, Tiina Kahre
, Thomas van Overeem Hansen
, Linetta Koppert
, Anna Lena Burgemeister
, Marc Tischkowitz
, Judith Balmaña
, Svetlana Bajalica-Lagercrantz^*

^*Corresponding author for this work

Surgery

Vall d'Hebron Institute of Oncology
St George's University Hospitals NHS Foundation Trust
Institute of Oncology Ljubljana
Pauls Stradins Clinical University Hospital
Masaryk Memorial Cancer Institute
Institut Curie (Paris)
University of Tartu
University of Copenhagen
Medical Genetics Center (MGZ)
University of Cambridge
Karolinska University Hospital

Research output: Contribution to journal › Review article › Academic › peer-review

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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.

Original language	English
Article number	3
Journal	BJC Reports
Volume	4
Issue number	1
DOIs	https://doi.org/10.1038/s44276-025-00202-w
Publication status	Published - 3 Feb 2026

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UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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s44276-025-00202-wFinal published version, 396 KBLicence: CC BY

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Pérez-Ballestero, E., Shire, S. A., Krajc, M., ERN GENTURIS, Irmejs, A., Foretová, L., Frank, S., Kahre, T., van Overeem Hansen, T., Koppert, L., Burgemeister, A. L., Tischkowitz, M., Balmaña, J., & Bajalica-Lagercrantz, S. (2026). Implementing mainstream germline genetic testing in breast cancer across Europe. BJC Reports, 4(1), Article 3. https://doi.org/10.1038/s44276-025-00202-w

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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.",

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Pérez-Ballestero, E, Shire, SA, Krajc, M, ERN GENTURIS, Irmejs, A, Foretová, L, Frank, S, Kahre, T, van Overeem Hansen, T, Koppert, L, Burgemeister, AL, Tischkowitz, M, Balmaña, J & Bajalica-Lagercrantz, S 2026, 'Implementing mainstream germline genetic testing in breast cancer across Europe', BJC Reports, vol. 4, no. 1, 3. https://doi.org/10.1038/s44276-025-00202-w

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T1 - Implementing mainstream germline genetic testing in breast cancer across Europe

AU - Pérez-Ballestero, Eduard

AU - Shire, Sagal Ahmed

AU - Krajc, Mateja

AU - ERN GENTURIS

AU - Irmejs, Arvīds

AU - Foretová, Lenka

AU - Frank, Sophie

AU - Kahre, Tiina

AU - van Overeem Hansen, Thomas

AU - Koppert, Linetta

AU - Burgemeister, Anna Lena

AU - Tischkowitz, Marc

AU - Balmaña, Judith

AU - Bajalica-Lagercrantz, Svetlana

PY - 2026/2/3

Y1 - 2026/2/3

N2 - 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.

AB - 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.

U2 - 10.1038/s44276-025-00202-w

DO - 10.1038/s44276-025-00202-w

M3 - Review article

C2 - 41634350

SN - 2731-9377

VL - 4

JO - BJC Reports

JF - BJC Reports

IS - 1

M1 - 3

ER -

Implementing mainstream germline genetic testing in breast cancer across Europe

Abstract

Bibliographical note

UN SDGs

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