ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)

Said C. Farschtschi*, Candy Kumps, Tamara Hussong Milagre, Periklis Makrythanasis, Ariane Van Tongerloo, Ellen Denayer, Mariëtte van Kouwen, Estela Carrasco López, Anna Sophie Berghoff, Salvo Testa, Claudia Cesaretti, Eva Trevisson, Renata d’ Oliveira, Francesca Fianchi, Claas Röhl, Diana Salinas-Chaparro, Ileen Slegers, Marianne Geilswijk, Manon Suerink, Irene SpinelliSandra Janssens, Sarah Pugh, Laura Kirstine Sønderberg Roos

*Corresponding author af dette arbejde

Abstract

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.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Human Genetics
ISSN1018-4813
DOI
StatusE-pub ahead of print - 13 jan. 2026

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