MUTYH-associated polyposis: review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa).

We report here the revised version of this work, which successively considers the phenotype and tumor risks associated with this genotype, differential diagnoses, criteria and strategy for molecular genetic testing and recommendations for the management of affected individuals. We also discuss the phenotype and tumor risks associated with monoallelic pathogenic variants of MUTYH.
PMID: 33059073 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - October 12, 2020 Category: Genetics & Stem Cells Authors: Colas C, Bonadona V, Baert-Desurmont S, Bonnet D, Coulet F, Dhooge M, Saurin JC, Remenieras A, Bignon YJ, Caron O, De Pauw A, Buisine MP, Buecher B Tags: Eur J Med Genet Source Type: research