{"id":8022,"date":"2025-07-18T02:55:44","date_gmt":"2025-07-18T00:55:44","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/gene-du-cancer-hereditaire-du-quebec-lie-a-un-ancetre\/"},"modified":"2025-07-18T02:55:47","modified_gmt":"2025-07-18T00:55:47","slug":"gene-du-cancer-hereditaire-du-quebec-lie-a-un-ancetre","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/gene-du-cancer-hereditaire-du-quebec-lie-a-un-ancetre\/","title":{"rendered":"G\u00e8ne du cancer h\u00e9r\u00e9ditaire du Qu\u00e9bec li\u00e9 \u00e0 un anc\u00eatre"},"content":{"rendered":"<div>\n<div class=\"article-gallery lightGallery\">\n<div data-thumb=\"https:\/\/scx1.b-cdn.net\/csz\/news\/tmb\/2025\/quebecs-hereditary-can.jpg\" data-src=\"https:\/\/scx2.b-cdn.net\/gfx\/news\/hires\/2025\/quebecs-hereditary-can.jpg\" data-sub-html=\"Carrier frequency estimation using ISGen. Heatmap showing the carrier frequency in 24 historic regions of Quebec. Scale is given in number of carriers per 1000 individuals. Five regions display a higher frequency than the rest of Quebec: Saguenay, C\u00f4te de Beaupr\u00e9, Charlevoix, Beauce, and C\u00f4te-du-Sud. Credit: &lt;i&gt;Clinical Genetics&lt;\/i&gt; (2025). DOI: 10.1111\/cge.14784\">\n<figure class=\"article-img\">\n<\/figure><\/div>\n<\/div>\n<p>Les chercheurs ont mis en lumi\u00e8re la variante g\u00e9n\u00e9tique la plus courante li\u00e9e au cancer h\u00e9r\u00e9ditaire de la population canadienne fran\u00e7aise du Qu\u00e9bec. Leurs r\u00e9sultats pourraient entra\u00eener des m\u00e9thodes de d\u00e9pistage moins ch\u00e8res et plus efficaces.<\/p>\n<p>La variante est associ\u00e9e au syndrome de Lynch, une condition qui augmente consid\u00e9rablement le risque de cancers colorectaux et autres.<\/p>\n<p>En utilisant des donn\u00e9es g\u00e9n\u00e9tiques de la cohorte de la population de Cartagene et des enregistrements g\u00e9n\u00e9alogiques de la base de donn\u00e9es Balsac, les chercheurs, dirig\u00e9s par des chercheurs de l&rsquo;Universit\u00e9 McGill et de l&rsquo;Institut de recherche du McGill University Health Center (l&rsquo;institut), a trac\u00e9 la variante de 11 g\u00e9n\u00e9rations \u00e0 un seul anc\u00eatre. Ils estiment qu&rsquo;environ un sur 800 Canadiens fran\u00e7ais porte la mutation, avec des taux plus \u00e9lev\u00e9s dans des r\u00e9gions telles que Charlevoix, C\u00f4te-de-Beaupr\u00e9, Saguenay &#8211; Lac-Saint-Jean, Beauce et C\u00f4te-du-Sud.<\/p>\n<p>L&rsquo;\u00e9tude est publi\u00e9e dans la revue <i>G\u00e9n\u00e9tique clinique<\/i>.<\/p>\n<p>La variante, PMS2 C.2117Del, a \u00e9t\u00e9 d\u00e9couverte \u00e0 l&rsquo;origine en 2008 chez plusieurs membres d&rsquo;une seule famille qu\u00e9b\u00e9coise souffrant du syndrome de Lynch. Ce qui n&rsquo;\u00e9tait pas connu jusqu&rsquo;\u00e0 pr\u00e9sent, c&rsquo;est \u00e0 quel point la variante est r\u00e9pandue \u00e0 travers la population ou o\u00f9 elle est n\u00e9e.<\/p>\n<p>\u00ab\u00a0Cette \u00e9tude montre comment les donn\u00e9es cliniques peuvent approfondir notre compr\u00e9hension de l&rsquo;histoire g\u00e9n\u00e9tique du Qu\u00e9bec et comment les enregistrements historiques peuvent clarifier les risques g\u00e9n\u00e9tiques actuels\u00a0\u00bb, a d\u00e9clar\u00e9 Simon Gravel, professeur au D\u00e9partement de g\u00e9n\u00e9tique humaine de McGill.<\/p>\n<p>Le co-auteur, le Dr William Foulkes, clinicien-scientifique de l&rsquo;Institut, a not\u00e9 que les r\u00e9sultats pourraient aider \u00e0 rendre le d\u00e9pistage g\u00e9n\u00e9tique pour identifier les Qu\u00e9b\u00e9cois \u00e0 risque \u00e9lev\u00e9 de cancer h\u00e9r\u00e9ditaire moins cher et plus efficace, en d\u00e9clarant: \u00ab\u00a0Le fait que cette variante pathog\u00e8ne pourrait prendre des risques \u00e0 faible co\u00fbt ciblant un risque pour un risque \u00e9lev\u00e9.<\/p>\n<p>La d\u00e9tection pr\u00e9coce du cancer colorectal est essentielle, a-t-il ajout\u00e9, car la maladie est souvent tr\u00e8s traitable lorsqu&rsquo;elle est captur\u00e9e t\u00f4t.<\/p>\n<p>                                        <!-- print only --><\/p><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Les chercheurs ont mis en lumi\u00e8re la variante g\u00e9n\u00e9tique la plus courante li\u00e9e au cancer<\/p>\n","protected":false},"author":1,"featured_media":8023,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[6039,391,1617,571,954,6038],"class_list":["post-8022","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-ancetre","tag-cancer","tag-gene","tag-hereditaire","tag-lie","tag-quebec","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.4 - 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