Implementing mainstream germline genetic testing in breast cancer across Europe

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

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
, 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)
, ERN GENTURIS

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

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
Externally published	Yes

UN SDGs

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

SDG 3 Good Health and Well-being

Keywords*

Biological Sciences
Biomedical and Clinical Sciences
Genetics
Health Services and Systems
Health Sciences
Oncology and Carcinogenesis
Cancer Genomics
Health Disparities
Precision Medicine
Prevention
cancer
Genetic Testing
Human Genome
Women's Health
Health Disparities and Racial or Ethnic Minority Health Research
Breast Cancer
Good Health and Well Being

Field of Science*

3.2 Clinical medicine
1.6 Biological sciences
3.3 Health sciences

Publication Type*

1.1. Scientific article indexed in Web of Science and/or Scopus database

Access to Document

10.1038/s44276-025-00202-wLicence: CC BY

Implementing mainstream germline geneticFinal published version, 396 KBLicence: CC BY

Cite this

Pérez-Ballestero, E., Shire, S. A., Krajc, M., Irmejs, A., Foretová, L., Frank, S., Kahre, T., van Overeem Hansen, T., Koppert, L., Burgemeister, A. L., Tischkowitz, M., Balmaña, J., Bajalica-Lagercrantz, S., & ERN GENTURIS (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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title = "Implementing mainstream germline genetic testing in breast cancer across Europe",

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.",

keywords = "Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Services and Systems, Health Sciences, Oncology and Carcinogenesis, Cancer Genomics, Health Disparities, Precision Medicine, Prevention, cancer, Genetic Testing, Human Genome, Women's Health, Health Disparities and Racial or Ethnic Minority Health Research, Breast Cancer, Good Health and Well Being",

author = "Eduard P{\'e}rez-Ballestero and Shire, \{Sagal Ahmed\} and Mateja Krajc and Arvīds Irmejs and Lenka Foretov{\'a} and Sophie Frank and Tiina Kahre and \{van Overeem Hansen\}, Thomas and Linetta Koppert and Burgemeister, \{Anna Lena\} and Marc Tischkowitz and Judith Balma{\~n}a and Svetlana Bajalica-Lagercrantz and \{ERN GENTURIS\}",

note = "{\textcopyright} 2026. The Author(s).",

year = "2026",

month = feb,

day = "3",

doi = "10.1038/s44276-025-00202-w",

language = "English",

volume = "4",

journal = "BJC reports",

issn = "2731-9377",

publisher = "Nature Portfolio",

number = "1",

}

Pérez-Ballestero, E, Shire, SA, Krajc, M, Irmejs, A, Foretová, L, Frank, S, Kahre, T, van Overeem Hansen, T, Koppert, L, Burgemeister, AL, Tischkowitz, M, Balmaña, J, Bajalica-Lagercrantz, S & ERN GENTURIS 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

TY - JOUR

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

AU - Pérez-Ballestero, Eduard

AU - Shire, Sagal Ahmed

AU - Krajc, Mateja

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

AU - ERN GENTURIS

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.

KW - Biological Sciences

KW - Biomedical and Clinical Sciences

KW - Genetics

KW - Health Services and Systems

KW - Health Sciences

KW - Oncology and Carcinogenesis

KW - Cancer Genomics

KW - Health Disparities

KW - Precision Medicine

KW - Prevention

KW - cancer

KW - Genetic Testing

KW - Human Genome

KW - Women's Health

KW - Health Disparities and Racial or Ethnic Minority Health Research

KW - Breast Cancer

KW - Good Health and Well Being

UR - https://www-webofscience-com.db.rsu.lv/wos/alldb/full-record/WOS:001679531400001

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

UN SDGs

Keywords*

Field of Science*

Publication Type*

Access to Document

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