{"id":1301,"date":"2019-07-17T22:13:13","date_gmt":"2019-07-17T22:13:13","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1301"},"modified":"2026-02-24T00:37:04","modified_gmt":"2026-02-24T00:37:04","slug":"clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\/","title":{"rendered":"Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria (Contributed by Dr. Xavier Llor)"},"content":{"rendered":"<p>Individuals with mutations in the <em>CDH1<\/em> gene have the inherited hereditary diffuse gastric cancer syndrome. This study is the first report on cancer risk in patients with <em>CDH1<\/em> mutations that were not previously selected from families highly suspicious for this syndrome. The results indicate that gastric cancer risks are lower and age at diagnosis higher than previously reported. Furthermore, a substantial proportion of families do not present with any gastric cancers and their cancers are limited to breast. Thus, clinical criteria for <em>CDH1 <\/em>testing should be widened, including breast cancer families only, and a consideration for delayed prophylactic stomach removal should be evaluated. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/07\/11\/jmedgenet-2019-105991\">https:\/\/jmg.bmj.com\/content\/early\/2019\/07\/11\/jmedgenet-2019-105991<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\/untitled-20\/\" rel=\"attachment wp-att-1302\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1302\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/07\/Untitled-229x300.jpg\" alt=\"\" width=\"229\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/07\/Untitled-229x300.jpg 229w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/07\/Untitled-768x1005.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/07\/Untitled-782x1024.jpg 782w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/07\/Untitled-640x838.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/07\/Untitled.jpg 865w\" sizes=\"auto, (max-width: 229px) 100vw, 229px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Individuals with mutations in the CDH1 gene have the inherited hereditary diffuse gastric cancer syndrome. This study is the first report on cancer risk in patients with CDH1 mutations that were not previously selected from families highly suspicious for this syndrome. The results indicate that gastric cancer risks are lower and age at diagnosis higher [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1301","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria (Contributed by Dr. Xavier Llor) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria (Contributed by Dr. Xavier Llor) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Individuals with mutations in the CDH1 gene have the inherited hereditary diffuse gastric cancer syndrome. This study is the first report on cancer risk in patients with CDH1 mutations that were not previously selected from families highly suspicious for this syndrome. The results indicate that gastric cancer risks are lower and age at diagnosis higher [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-07-17T22:13:13+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:37:04+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/07\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"865\" \/>\n\t<meta property=\"og:image:height\" content=\"1132\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria (Contributed by Dr. Xavier Llor)\",\"datePublished\":\"2019-07-17T22:13:13+00:00\",\"dateModified\":\"2026-02-24T00:37:04+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\\\/\"},\"wordCount\":131,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/07\\\/Untitled-229x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/clinical-features-and-cancer-risk-in-families-with-pathogenic-cdh1-variants-irrespective-of-clinical-criteria\\\/\",\"name\":\"Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria (Contributed by Dr. Xavier Llor) - 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