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Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps

Autores: Guarinos, Carla; Juárez, Miriam; Egoavil, Cecilia; Rodríguez-Soler, María; Pérez-Carbonell, Lucía; Salas, Ramón; Cubiella, Joaquín; Rodríguez-Moranta, Francisco; De Castro, Luisa; Bujanda, Luis; Serradesanferm, Anna; Nicolás-Pérez, David; Herráiz Bayod, Maite; Fernández-Bañares, Fernando; Herreros de Tejada, Alberto; Aguirre Rodríguez, Elena; Balmaña, Judith; Rincón, María Luisa; Pizarro, María Ángeles; Polo-Ortiz, Francisco; Castillejo, Adela; Alenda, Cristina; Payá, Artemio; Soto, José Luis; Jover, Rodrigo
Título de la revista: CLINICAL CANCER RESEARCH
ISSN: 1078-0432
Volumen: 20
Número: 5
Páginas: 1158-1168
Fecha de publicación: 2014
Resumen:
We observed a low frequency of MUTYH mutations among patients with multiple adenomatous and serrated polyps. The MAP phenotype frequently included patients with serrated polyps, especially when G396D mutation was involved. Our results show that somatic molecular markers of polyps can be useful in identifying MAP cases and support the need for the complete MUTYH gene analysis only in patients heterozygous for recurrent variants.
DOI: https://doi.org/ 10.1158/1078-0432.CCR-13-1490
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