{"id":1698,"date":"2022-01-25T17:55:26","date_gmt":"2022-01-25T17:55:26","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1698"},"modified":"2026-02-23T01:05:38","modified_gmt":"2026-02-23T01:05:38","slug":"simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/01\/25\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\/","title":{"rendered":"Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants (Contributed by Dr Xavier Llor)"},"content":{"rendered":"<p>Individuals carrying mutations in the\u00a0<em>CDH1<\/em>\u00a0gene have a high likelihood of developing stomach cancer (lifetime risk 24-42%) and breast cancer (lifetime risk about 43-55%). Identification of these individuals through genetic testing is important because these cancers can be prevented by prophylactic surgery or detected early with endoscopy and breast imaging. Current guidelines recommend genetic testing when certain clinical criteria are met. These criteria are difficult to remember and apply in the real world. Using data from 112 known\u00a0<em>CDH1\u00a0<\/em>mutation carriers, we show that these clinical criteria are also overly restrictive, capturing only about 20% of individuals who harbor\u00a0<em>CDH1<\/em>\u00a0mutations. We then propose simpler criteria that would identify nearly 90% of\u00a0<em>CDH1<\/em> mutation carriers. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/01\/24\/jmedgenet-2021-108169\">https:\/\/jmg.bmj.com\/content\/early\/2022\/01\/24\/jmedgenet-2021-108169<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/01\/25\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\/untitled-52\/\" rel=\"attachment wp-att-1699\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1699\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/01\/Untitled-300x153.jpg\" alt=\"\" width=\"300\" height=\"153\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/01\/Untitled-300x153.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/01\/Untitled.jpg 630w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Individuals carrying mutations in the\u00a0CDH1\u00a0gene have a high likelihood of developing stomach cancer (lifetime risk 24-42%) and breast cancer (lifetime risk about 43-55%). Identification of these individuals through genetic testing is important because these cancers can be prevented by prophylactic surgery or detected early with endoscopy and breast imaging. Current guidelines recommend genetic testing when [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/01\/25\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\/\">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-1698","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants (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\/2022\/01\/25\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants (Contributed by Dr Xavier Llor) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Individuals carrying mutations in the\u00a0CDH1\u00a0gene have a high likelihood of developing stomach cancer (lifetime risk 24-42%) and breast cancer (lifetime risk about 43-55%). Identification of these individuals through genetic testing is important because these cancers can be prevented by prophylactic surgery or detected early with endoscopy and breast imaging. Current guidelines recommend genetic testing when [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/01\/25\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-01-25T17:55:26+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T01:05:38+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/01\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"630\" \/>\n\t<meta property=\"og:image:height\" content=\"322\" \/>\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\\\/2022\\\/01\\\/25\\\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/01\\\/25\\\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants (Contributed by Dr Xavier Llor)\",\"datePublished\":\"2022-01-25T17:55:26+00:00\",\"dateModified\":\"2026-02-23T01:05:38+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/01\\\/25\\\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\\\/\"},\"wordCount\":138,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/01\\\/25\\\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/01\\\/Untitled-300x153.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/01\\\/25\\\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/01\\\/25\\\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/01\\\/25\\\/simplified-and-more-sensitive-criteria-for-identifying-individuals-with-pathogenic-cdh1-variants\\\/\",\"name\":\"Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants (Contributed by Dr Xavier Llor) - 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