ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)
Year: 2026
Type: article
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.
Authors: 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 Spinelli, Sandra Janssens, Sarah Pugh, Laura Kirstine Sønderberg Roos
Institutions: University Medical Center Hamburg-Eppendorf, Ghent University Hospital, University of Geneva, National and Kapodistrian University of Athens, Biomedical Research Foundation of the Academy of Athens, Children's Hospital Agia Sophia, Universitair Ziekenhuis Leuven, KU Leuven, Radboud University Medical Center, Vall d'Hebron Hospital Universitari, Medical University of Vienna, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Padua, Azienda Ospedale - Università Padova, Agostino Gemelli University Polyclinic, Hospital Sant Joan de Déu Barcelona, Universitair Ziekenhuis Brussel, Aarhus University Hospital, Leiden University Medical Center, University of Manchester, Manchester University NHS Foundation Trust, Rigshospitalet
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $2,790
OpenAlex ID: W7123541856