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MUTYH-associated polyposis: review and update of the French recommendations established in 2012 under the auspices of the National Cancer Institute (INCa) Volume 27, issue 4, Avril 2020

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Authors
1 CHU de Lille, Institut de Biochimie et de Biologie Moléculaire, Oncogénétique Moléculaire ; Inserm UMR-S 1172, Université de Lille, Lille
2 Institut Universitaire du Cancer – Oncopôle, Oncogénétique ; Pôle Hospitalo-Universitaire des Maladies Digestives, CHU Rangueil, Toulouse
3 Centre Léon-Bérard, Unité clinique d’Oncologie Génétique, Lyon ; Université de Lyon 1, CNRS, LBBE UMR Villeurbanne
4 Hôpital de la Pitié-Salpêtrière, Service de génétique, Paris
5 CHU deRouen, Service de génétique ; Inserm U1245, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine (GPMCND), Rouen
6 AP-HP Centre (site Cochin), Université de Paris, Unité d’Oncogénétique Clinique, Gastroentérologie, Paris
7 Hospices Civils de Lyon, Hôpital Edouard-Herriot, Service d’hépato-gastroentérologie ; Université Claude Bernard, Lyon
8 Institut Paoli Calmettes, Laboratoire d’Oncogénétique Moléculaire, Marseille
9 Faculté de Médecine de Clermont Ferrand, Laboratoire de Biologie Médicale OncoGènAuvergne et département d’Oncogénétique, UMR INSERM 1240, Clermont-Ferrand
10 Gustave Roussy, Département de Médecine Oncologique, Cancer Campus, Villejuif
11 Institut Curie, PSL Research University, Département de Génétique, 26 rue d’Ulm, 75248 Paris Cedex 05
* Correspondance

MUTYH-associated polyposis (MUTYH-associated polyposis, MAP) is an autosomal recessive inheritance disorder related to bi-allelic constitutional pathogenic variants of theMUTYH gene which was first described in 2002. In 2011, a group of French experts composed of clinicians and biologists, performed a summary of the available data on this condition and drew up recommendations concerning the indications and the modalities of molecular analysis of the MUTYH gene in index cases and their relatives, as well as the management of affected individuals. In view of recent developments, some recommendations have become obsolete, in particular with regard to the molecular analysis strategy since MUTYH gene has been recently included in a consensus panel of 14 genes predisposing to colorectal cancer. This led us to revise all the points of the previous expertise. We report here the revised version of this work which successively considers the phenotype and the tumor risks associated with this genotype, the differential diagnoses, the indication criteria and the strategy of the molecular analysis and the recommendations for the management of affected individuals. We also discuss the phenotype and the tumor risks associated with mono-allelic pathogenic variants of MUTYHgene.