# Implementing mainstream germline genetic testing in breast cancer across Europe

**Authors:** 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

PMC · DOI: 10.1038/s44276-025-00202-w · BJC Reports · 2026-02-03

## TL;DR

This paper discusses the implementation of germline genetic testing for breast cancer in Europe, highlighting its benefits, challenges, and the need for proper counseling and education.

## Contribution

The paper proposes a web-based educational session and pocket guide to support the implementation of mainstream genetic testing in oncology.

## Key findings

- Mainstream genetic testing helps in stratifying patients for targeted treatment and has surgical and surveillance implications.
- Adapted pre-test counseling is essential when non-genetic specialists perform the testing.
- Educational tools are needed to support oncology practice in implementing genetic testing.

## 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.

## Linked entities

- **Diseases:** breast cancer (MONDO:0004989)

## Full-text entities

- **Genes:** BRCA2 (BRCA2 DNA repair associated) [NCBI Gene 675] {aka BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD}, PALB2 (partner and localizer of BRCA2) [NCBI Gene 79728] {aka BROVCA5, FANCN, PNCA3}, ALB (albumin) [NCBI Gene 213] {aka FDAHT, HSA, PRO0883, PRO0903, PRO1341}, BRCA1 (BRCA1 DNA repair associated) [NCBI Gene 672] {aka BRCAI, BRCC1, BROVCA1, FANCS, IRIS, PNCA4}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}
- **Diseases:** ovarian cancer (MESH:D010051), Cancer (MESH:D009369), gPV (MESH:D008881), PV (MESH:D011087), soft tissue sarcoma (MESH:D012509), breast cancer (MESH:D001943), TNBC (MESH:D064726), HBOC (MESH:D061325), Hereditary Cancer (MESH:D009386), pancreatic (MESH:D010195)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12867965/full.md

## References

5 references — full list in the complete paper: https://tomesphere.com/paper/PMC12867965/full.md

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Source: https://tomesphere.com/paper/PMC12867965