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

doi:10.1038/s41431-026-02040-x

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Article

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

European journal of human genetics : EJHG - 1 Sept 2026

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, Waespe Nicolas

Abstract excerpt

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...

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Topics

Humans
Genetic Testing
Genetic Predisposition to Disease
Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Europe

Female

Neoplastic Syndromes, Hereditary

Genetic Counseling

Cross-Sectional Studies

Neoplasms

Male

Surveys and Questionnaires

Source

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Identifiers

PMID: 41772285
DOI: 10.1038/s41431-026-02040-x
PMCID: PMC13550621

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