ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)
Cancer predisposition syndromes (CPSs), including genetic tumour risk syndromes (genturis), are a heterogeneous group of genetic disorders characterised by an increased risk of developing tumours compared to the general population. CPSs raise reproductive issues for affected individuals because of the risk of passing the disease-causing genetic alterations on to offspring. The demand for reproductive counselling is often unmet due to the lack of sufficient healthcare professionals with the specialised knowledge, experience and skill. Based on a comprehensive literature review of 851 publications and expert consensus (multidisciplinary medical experts and patient representatives), the European Reference Network on genetic tumour risk syndromes (ERN GENTURIS) developed a guideline providing 16 recommendations for reproductive counselling in CPSs. The central recommendation is to offer reproductive counselling proactively to all individuals with a CPS and their relevant family members, together with psychological support and in multidisciplinary collaborations. This guideline aims to standardize the offer of reproductive counselling for individuals with a CPS across Europe, empowers healthcare professionals for their specific tasks, and helps patients dealing with their own challenges.
Authors
- Marianne Geilswijk
- Salvo Testa
- Said Farschtschi (ORCID: https://orcid.org/0000-0002-3596-5932)
- Laura Roos (ORCID: https://orcid.org/0000-0001-9352-701X)
- Ellen Denayer (ORCID: https://orcid.org/0000-0001-6478-181X)
- Estela Carrasco Lopez
- Manon Suerink (ORCID: https://orcid.org/0000-0001-7058-6973)
- Mariëtte van Kouwen
- Tamara Milagre
- Ileen Slegers (ORCID: https://orcid.org/0000-0001-5907-829X)
- Periklis Makrythanasis (ORCID: https://orcid.org/0000-0002-3725-0113)
- Francesca Fianchi (ORCID: https://orcid.org/0000-0001-6366-6836)
- Diana Salinas-Chaparro
- I. Spinelli
- Ariane J. A. G. Van Tongerloo (ORCID: https://orcid.org/0000-0002-0645-9619)
- Sarah Pugh
- Claas Röhl
- Anna Sophie Berghoff
- Eva Trevisson
- Candy Kumps
- Claudia Cesaretti
- Renata d’ Oliveira
Institutions
- University of Geneva (CH)
- Hospital Sant Joan de Déu Barcelona (ES)
- University of Padua (IT)
- Radboud University Nijmegen (NL)
- Universität Hamburg (DE)
- National and Kapodistrian University of Athens (GR)
- Leiden University Medical Center (NL)
- Ghent University Hospital (BE)
- Aarhus University Hospital (DK)
- Agostino Gemelli University Polyclinic (IT)
- Hereditary Disease Foundation (US)
- Rigshospitalet (DK)
- Radboud University Medical Center (NL)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Hospital de São João (PT)
- Manchester University NHS Foundation Trust (GB)
- Biomedical Research Foundation of the Academy of Athens (GR)
- University Medical Center Hamburg-Eppendorf (DE)
- Administração Regional de Saúde de Lisboa e Vale do Tejo (PT)
- Rome Foundation (US)
- Children's Hospital Agia Sophia (GR)
- Universitair Ziekenhuis Brussel (BE)
- Vall d'Hebron Hospital Universitari (ES)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- The Patients Association (GB)
- Medical University of Vienna (AT)
- KU Leuven (BE)
Publication Details
- Journal
- European Journal of Human Genetics
- Published
- 2026-01-13
- DOI
- https://doi.org/10.1038/s41431-025-02007-4
- Citations
- 1
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 30.93
Funders
- European Commission
- Third Health Programme