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

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Authors: Said Farschtschi, Candy Kumps, Tamara Milagre, Periklis Makrythanasis, Ariane J. A. G. Van Tongerloo, Ellen Denayer, Mariëtte van Kouwen, Estela Carrasco Lopez, Anna Sophie Berghoff, Salvo Testa, Claudia Cesaretti, Eva Trevisson
+11 more Renata d’ Oliveira, Francesca Fianchi, Claas Röhl, Diana Salinas-Chaparro, Ileen Slegers, Marianne Geilswijk, Manon Suerink, I. Spinelli, Sandra Janssens, Sarah Pugh, Laura Roos
Cited by: 4
References: 23

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.

Fields of Study & Subjects

BRCA gene mutations in cancer Reproductive Biology and Fertility Prenatal Screening and Diagnostics

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
3
Pages
307–313
Publication date
13 January 2026
Language
EN