La polypose associée à MUTYH : synthèse des données disponibles en 2020 et actualisation des recommandations françaises établies en 2012 sous l’égide de l’Institut National du Cancer (INCa) (notice n° 267067)
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| fixed length control field | 04473cam a2200409 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112075521.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Buisine, Marie-Pierre |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | La polypose associée à MUTYH : synthèse des données disponibles en 2020 et actualisation des recommandations françaises établies en 2012 sous l’égide de l’Institut National du Cancer (INCa) |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2020.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 90 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | La polypose associée à MUTYH ( MUTYH-associated polyposis, MAP) est une affection de transmission autosomique récessive liée à une mutation constitutionnelle 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 14 gènes de prédisposition aux cancers du tube digestif récemment établi par le groupe Génétique et Cancer de 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 mutations mono-alléliques du gène MUTYH. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | 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 MUTYH gene. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | gène |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | panel de gènes de prédisposition aux cancers colorectaux |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | polypose adénomateuse colorectale |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | MUTYH |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | multigene panel |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | hereditary colorectal cancer |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | Colorectal adenomatous polyposis |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | MUTYH |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonnet, Delphine |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonadona, Valérie |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coulet, Florence |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baert-Desurmont, Stéphanie |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dhooge, Marion |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saurin, Jean-Christophe |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Remenieras, Audrey |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bignon, Yves-Jean |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caron, Olivier |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Pauw, Antoine |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Colas, Chrystelle |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buecher, Bruno |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Hépato-Gastro & Oncologie Digestive | 27 | 4 | 2020-04-01 | p. 396-406 | 2115-3310 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-hepato-gastro-et-oncologie-digestive-2020-4-page-396?lang=fr">https://shs.cairn.info/revue-hepato-gastro-et-oncologie-digestive-2020-4-page-396?lang=fr</a> |
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