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• W3023305659 abstract "La polypose associée à MUTYH (MUTYH-associated polyposis [MAP]) est une affection de transmission autosomique récessive liée à un variant pathogène constitutionnel des deux allèles du gène MUTYH. La première description date de 2002. En 2011, un groupe d’experts français composé de cliniciens et de biologistes a réalisé, sous l’égide de l’Institut National du Cancer (INCa), une synthèse des données disponibles relatives à cette affection et établi des recommandations relatives aux indications et aux modalités de l’analyse moléculaire du gène MUTYH chez les cas index et leurs apparentés, ainsi qu’à la prise en charge des individus atteints. Compte tenu des évolutions récentes, certaines recommandations sont devenues caduques, en particulier pour ce qui concerne la stratégie d’analyse moléculaire puisque le gène MUTYH est dorénavant inclus dans un panel consensuel de quatorze gènes de prédisposition aux cancers du tube digestif récemment établi par le Groupe Génétique et Cancer d’UNICANCER. Ceci nous a conduits à reformuler ces recommandations, à définir de nouveaux critères d’indication d’analyse et finalement à réviser l’ensemble des points de la précédente expertise. Nous rapportons ici la version révisée de ce travail qui envisage successivement le phénotype et les risques tumoraux associés à ce génotype, les diagnostics différentiels, les indications et les stratégies d’analyse moléculaire et les recommandations pour la prise en charge des individus atteints. Il est également question du phénotype et des risques tumoraux associés aux variants pathogènes mono-alléliques du gène MUTYH. MUTYH-associated polyposis (MUTYH-associated polyposis, MAP) is an autosomal recessive inheritance disorder related to bi-allelic constitutional pathogenic variants of the MUTYH 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 MUTYH gene." @default.
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• W3023305659 date "2020-05-01" @default.
• W3023305659 modified "2023-10-17" @default.
• W3023305659 title "La polypose associée à MUTYH : synthèse et actualisation des recommandations françaises établies en 2012 sous l’égide de l’Institut national du cancer (INCa)" @default.
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• W3023305659 doi "https://doi.org/10.1016/j.bulcan.2020.02.004" @default.
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