Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations

Ćavar Pavić, Jakica, Cullinan, Noelle, Jongmans, Marjolijn, Bourdeaut, Franck, Wadt, Karin, LoNigro, Luca, Davies, Mark, Michaeli, Orli, Strang-Karlsson, Sonja, de Putter, Robin, Sepulchre, Edith, Cazzaniga, Giovanni, Furtwängler, Rhoikos, Zweier, Christiane, Rössler, Jochen and Waespe, Nicolas 2026. Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations. European Journal of Human Genetics 10.1038/s41431-026-02040-x

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Abstract

Cancer Predisposition Syndromes (CPS) are heritable genetic conditions associated with an increased risk of developing various cancers throughout life. While early identification and tumour surveillance can improve outcomes, CPS are often underdiagnosed in clinical practice. To evaluate clinicians’ perspectives and identify barriers to CPS identification and care across Europe, we conducted the SCOPE study: a three-part cross-sectional survey of paediatric haematology/oncology professionals, followed by a modified Delphi consensus process with members of the SIOP Europe Host Genome Working Group. A total of 185 paediatric oncologists from 22 countries participated in the survey. More than 40% of participants reported low or uncertain confidence across different CPS-related tasks, particularly in counselling families (64.3%) and interpreting germline genetic findings (57.3%). Access to clinical geneticists and dedicated CPS clinics were predictors of higher confidence for some domains, while individual experience and institutional patient volume had limited influence. Regular use of universal CPS screening tools was low (42.3%), with most clinicians relying on personal judgement rather than structured criteria. The most cited barriers were lack of screening guidelines (57%) and difficulties in interpreting results (35.1%). Regular training and workshops, availability of genetic counsellors or educators for patient support, and patient-friendly education material were most cited as areas of improvement. The Delphi process led to three recommendations: (1) improve clinician training and communication strategies, (2) integrate CPS screening into standard treatment plans, and (3) develop accessible, patient-centred educational materials. These recommendations highlight opportunities to enhance CPS care through structured support, interdisciplinary collaboration, and systematic screening approaches.

Item Type:	Article
Date Type:	Published Online
Status:	In Press
Schools:	Schools > Medicine
Publisher:	Springer Nature [academic journals on nature.com]
ISSN:	1018-4813
Date of First Compliant Deposit:	9 March 2026
Date of Acceptance:	4 February 2026
Last Modified:	09 Mar 2026 15:00
URI:	https://orca.cardiff.ac.uk/id/eprint/185623

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