Optimizing genetic testing strategy for suspected attenuated adenomatous polyposis: effective solutions in public health systems

APC and MUTYH genes are key in hereditary attenuated adenomatous polyposis syndromes. Guidelines recommend genetic testing based on polyp count, often overlooking age despite its impact on polyp prevalence. To enhance genetic testing strategies for suspected attenuated adenomatous polyposis by combi...

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Veröffentlicht in:	Clinical & translational oncology 2024-12
Hauptverfasser:	García-Simón, Natalia, Valentín, Fátima, Royuela, Ana, Hidalgo-Calero, Beatriz, Blázquez-Martín, Ricardo, de-Miguel-Reyes, Montserrat, Sánchez-Zapardiel, José María, Adán-Merino, Luisa, Rodríguez-Festa, Alejandro, Gallego-Gil, Patricia, Mediavilla-Medel, Pilar, Quiñonero-Moreno, Laura, Gutiérrez, Lourdes, Herreros-de-Tejada, Alberto, Sánchez, Antonio, Provencio, Mariano, Romero, Atocha
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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Zusammenfassung:	APC and MUTYH genes are key in hereditary attenuated adenomatous polyposis syndromes. Guidelines recommend genetic testing based on polyp count, often overlooking age despite its impact on polyp prevalence. To enhance genetic testing strategies for suspected attenuated adenomatous polyposis by combining polyp count and age in a probability calculator. Retrospective study of adult patients referred to NGS genetic testing for suspected attenuated adenomatous polyposis (accumulated history of
ISSN:	1699-3055 1699-3055
DOI:	10.1007/s12094-024-03811-y