{"id":1694,"date":"2021-12-26T16:18:56","date_gmt":"2021-12-26T16:18:56","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1694"},"modified":"2026-02-23T01:06:32","modified_gmt":"2026-02-23T01:06:32","slug":"cdh1-germline-mutations-in-healthy-individuals-from-families-with-the-hereditary-diffuse-gastric-cancer-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/26\/cdh1-germline-mutations-in-healthy-individuals-from-families-with-the-hereditary-diffuse-gastric-cancer-syndrome\/","title":{"rendered":"CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome (Contributed by Dr. Giovanni Corso)"},"content":{"rendered":"<p>Hereditary diffuse gastric cancer is an inherited cancer predisposition syndrome associated with<em> CDH1<\/em> germline mutations. To date, more than 500 mutations are described from different countries, with a particular higher mutation frequency in countries with low incidence for gastric cancer. The distribution of germline mutations sub-types in this inherited cancer susceptibility is rather heterogeneous: missense variants represent about 23.3% of the cases, followed by deletions (22.6%) and non-sense (22.2%), and splicing alterations (21.5%). Insertions are less frequently described, constituting 10.3% of all <em>CDH1 <\/em>mutations. If we consider <em>CDH1<\/em> germline mutations identified in healthy individuals respecting to subjects affected by gastric tumor, we observed a higher frequency of splicing and missense mutations in healthy individuals rather than gastric cancer patients, and these mutations seem to be associated with a lower risk for developing gastric cancer. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/12\/23\/jmedgenet-2021-108226\">https:\/\/jmg.bmj.com\/content\/early\/2021\/12\/23\/jmedgenet-2021-108226<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/26\/cdh1-germline-mutations-in-healthy-individuals-from-families-with-the-hereditary-diffuse-gastric-cancer-syndrome\/dott-giovanni-corso-2\/\" rel=\"attachment wp-att-1695\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1695\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Dott-Giovanni-Corso-2-269x300.jpg\" alt=\"\" width=\"269\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Dott-Giovanni-Corso-2-269x300.jpg 269w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Dott-Giovanni-Corso-2-917x1024.jpg 917w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Dott-Giovanni-Corso-2-768x858.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Dott-Giovanni-Corso-2-640x715.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/Dott-Giovanni-Corso-2.jpg 1080w\" sizes=\"auto, (max-width: 269px) 100vw, 269px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hereditary diffuse gastric cancer is an inherited cancer predisposition syndrome associated with CDH1 germline mutations. To date, more than 500 mutations are described from different countries, with a particular higher mutation frequency in countries with low incidence for gastric cancer. The distribution of germline mutations sub-types in this inherited cancer susceptibility is rather heterogeneous: missense [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/26\/cdh1-germline-mutations-in-healthy-individuals-from-families-with-the-hereditary-diffuse-gastric-cancer-syndrome\/\">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-1694","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>CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome (Contributed by Dr. Giovanni Corso) - 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\/2021\/12\/26\/cdh1-germline-mutations-in-healthy-individuals-from-families-with-the-hereditary-diffuse-gastric-cancer-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome (Contributed by Dr. Giovanni Corso) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Hereditary diffuse gastric cancer is an inherited cancer predisposition syndrome associated with CDH1 germline mutations. To date, more than 500 mutations are described from different countries, with a particular higher mutation frequency in countries with low incidence for gastric cancer. 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