{"id":539,"date":"2013-05-25T18:19:54","date_gmt":"2013-05-25T18:19:54","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=539"},"modified":"2026-02-25T20:10:43","modified_gmt":"2026-02-25T20:10:43","slug":"cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/","title":{"rendered":"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO)"},"content":{"rendered":"

Mutations in CDH1 <\/i>cause the Hereditary Diffuse Gastric Cancer Syndrome. We report the largest series to date of index cases with a germline CDH1<\/i> mutation, and propose a revision of the testing criteria as a substantial proportion of our cases did not fulfil them. More specifically, we show that patients with a personal or family history of multiple breast cancers of the lobular type, even in the absence of diffuse gastric cancer, often carry CDH1 <\/i>mutations. We also highlight the importance of identifying carriers early in order to offer them prophylactic gastrectomy before they develop highly-lethal, symptomatic diffuse gastric cancer. Finally, we propose for consideration the name \u201cHereditary Diffuse Gastric and Lobular Breast Cancer\u201d, instead of \u201cHereditary Diffuse Gastric Cancer\u201d to define the syndrome associated with germline CDH1 <\/i>mutations.\u00a0 (http:\/\/jmg.bmj.com\/content\/early\/2013\/05\/24\/jmedgenet-2012-101472<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Mutations in CDH1 cause the Hereditary Diffuse Gastric Cancer Syndrome. We report the largest series to date of index cases with a germline CDH1 mutation, and propose a revision of the testing criteria as a substantial proportion of our cases did not fulfil them. More specifically, we show that patients with a personal or family […]<\/p>\n

Read More…<\/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-539","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nCDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO) - 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\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mutations in CDH1 cause the Hereditary Diffuse Gastric Cancer Syndrome. We report the largest series to date of index cases with a germline CDH1 mutation, and propose a revision of the testing criteria as a substantial proportion of our cases did not fulfil them. More specifically, we show that patients with a personal or family [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-05-25T18:19:54+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:10:43+00:00\" \/>\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\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO)\",\"datePublished\":\"2013-05-25T18:19:54+00:00\",\"dateModified\":\"2026-02-25T20:10:43+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/\"},\"wordCount\":158,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/\",\"name\":\"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2013-05-25T18:19:54+00:00\",\"dateModified\":\"2026-02-25T20:10:43+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/25\\\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/","og_locale":"en_US","og_type":"article","og_title":"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO) - JMG Contact blog","og_description":"Mutations in CDH1 cause the Hereditary Diffuse Gastric Cancer Syndrome. We report the largest series to date of index cases with a germline CDH1 mutation, and propose a revision of the testing criteria as a substantial proportion of our cases did not fulfil them. More specifically, we show that patients with a personal or family [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/","og_site_name":"JMG Contact blog","article_published_time":"2013-05-25T18:19:54+00:00","article_modified_time":"2026-02-25T20:10:43+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO)","datePublished":"2013-05-25T18:19:54+00:00","dateModified":"2026-02-25T20:10:43+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/"},"wordCount":158,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/","url":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/","name":"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2013-05-25T18:19:54+00:00","dateModified":"2026-02-25T20:10:43+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/25\/cdh1-germline-mutations-and-the-hereditary-diffuse-gastric-and-lobular-breast-cancer-syndrome-a-multicentre-study\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"CDH1 Germline Mutations and the Hereditary Diffuse Gastric and Lobular Breast Cancer Syndrome: a Multicentre Study (Contributed by Dr Patrick BENUSIGLIO)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/539","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=539"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/539\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=539"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=539"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=539"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}