{"id":1354,"date":"2019-10-08T12:20:40","date_gmt":"2019-10-08T12:20:40","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1354"},"modified":"2026-02-24T00:24:27","modified_gmt":"2026-02-24T00:24:27","slug":"gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/10\/08\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\/","title":{"rendered":"Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3\u2032-end (Contributed by Prof. Cristiano Simone)"},"content":{"rendered":"<p>Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Truncating mutations in APC extreme 3\u2019-end are rare and have not been clearly associated with a specific phenotype. Here we studied 101 clinically characterized patients harboring truncating mutations in APC extreme 3\u2019-end in order to better decipher the patients\u2019 phenotype. We report that mutations affecting APC distal portion identify a novel FAP clinical variant &#8211; Gastric Polyposis and Desmoid FAP (GD-FAP) &#8211; whose phenotype is characterized by colon oligopolyposis, diffuse gastric polyposis, and desmoid tumors. GD-FAP patients should start a tailored surveillance at the age of 20 by performing colonoscopy every 2-3 years, esophago-gastroduodenoscopy and abdominal ultrasound annually. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/10\/04\/jmedgenet-2019-106299\">https:\/\/jmg.bmj.com\/content\/early\/2019\/10\/04\/jmedgenet-2019-106299<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/10\/08\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\/20190321_140109\/\" rel=\"attachment wp-att-1355\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1355\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/10\/20190321_140109-300x222.jpg\" alt=\"\" width=\"300\" height=\"222\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/10\/20190321_140109-300x222.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/10\/20190321_140109-768x568.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/10\/20190321_140109-1024x757.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2019\/10\/20190321_140109-640x473.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Truncating mutations in APC extreme 3\u2019-end are rare and have not been clearly associated with a specific phenotype. Here we studied 101 clinically characterized patients harboring truncating mutations in APC extreme 3\u2019-end in order [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/10\/08\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\/\">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-1354","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3\u2032-end (Contributed by Prof. Cristiano Simone) - 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\/10\/08\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3\u2032-end\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3\u2032-end (Contributed by Prof. Cristiano Simone) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Truncating mutations in APC extreme 3\u2019-end are rare and have not been clearly associated with a specific phenotype. Here we studied 101 clinically characterized patients harboring truncating mutations in APC extreme 3\u2019-end in order [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/10\/08\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3\u2032-end\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-10-08T12:20:40+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:24:27+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/10\/20190321_140109-1024x757.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1024\" \/>\n\t<meta property=\"og:image:height\" content=\"757\" \/>\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\\\/10\\\/08\\\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/10\\\/08\\\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3\u2032-end (Contributed by Prof. Cristiano Simone)\",\"datePublished\":\"2019-10-08T12:20:40+00:00\",\"dateModified\":\"2026-02-24T00:24:27+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/10\\\/08\\\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\\\/\"},\"wordCount\":150,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/10\\\/08\\\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/10\\\/20190321_140109-300x222.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/10\\\/08\\\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/10\\\/08\\\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/10\\\/08\\\/gastric-polyposis-and-desmoid-tumours-as-a-new-familial-adenomatous-polyposis-clinical-variant-associated-with-apc-mutation-at-the-extreme-3%e2%80%b2-end\\\/\",\"name\":\"Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3\u2032-end (Contributed by Prof. Cristiano Simone) - 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Truncating mutations in APC extreme 3\u2019-end are rare and have not been clearly associated with a specific phenotype. 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