{"id":1683,"date":"2021-12-15T14:50:13","date_gmt":"2021-12-15T14:50:13","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1683"},"modified":"2026-02-23T01:09:04","modified_gmt":"2026-02-23T01:09:04","slug":"new-locus-underlying-familial-adenomatous-polyposis-3-9-mb-rearrangement-disrupting-apc-expression","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/15\/new-locus-underlying-familial-adenomatous-polyposis-3-9-mb-rearrangement-disrupting-apc-expression\/","title":{"rendered":"New locus underlying familial adenomatous polyposis: 3.9 MB rearrangement disrupting APC expression (Contributed by Florentine Scharf)"},"content":{"rendered":"<p>Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome caused by changes in the <em>APC<\/em> gene, but approximately 20% of patients remain unsolved after routine diagnostics. In this work, we applied multidimensional genomic analyses to solve a case of FAP after more than 20 years. We identified a complex genomic rearrangement disrupting several coding genes and resulting in downregulation of <em>APC<\/em> mRNA expression. Our findings broaden the spectrum of known genetic mechanisms underlying FAP that may increase diagnostic yield in the future. Additionally, the stepwise analytical strategy we developed can serve as blueprint for integration into a routine diagnostic workflow. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/12\/13\/jmedgenet-2021-108147\">https:\/\/jmg.bmj.com\/content\/early\/2021\/12\/13\/jmedgenet-2021-108147<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/15\/new-locus-underlying-familial-adenomatous-polyposis-3-9-mb-rearrangement-disrupting-apc-expression\/jmedgenet-2021-108147-lay_abstract_figure\/\" rel=\"attachment wp-att-1684\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1684\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/jmedgenet-2021-108147.lay_abstract_figure-300x169.png\" alt=\"\" width=\"300\" height=\"169\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/jmedgenet-2021-108147.lay_abstract_figure-300x169.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/jmedgenet-2021-108147.lay_abstract_figure-1024x576.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/jmedgenet-2021-108147.lay_abstract_figure-768x432.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/jmedgenet-2021-108147.lay_abstract_figure-1536x864.png 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/jmedgenet-2021-108147.lay_abstract_figure-2048x1152.png 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/12\/jmedgenet-2021-108147.lay_abstract_figure-640x360.png 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome caused by changes in the APC gene, but approximately 20% of patients remain unsolved after routine diagnostics. In this work, we applied multidimensional genomic analyses to solve a case of FAP after more than 20 years. We identified a complex genomic rearrangement disrupting several coding genes [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/12\/15\/new-locus-underlying-familial-adenomatous-polyposis-3-9-mb-rearrangement-disrupting-apc-expression\/\">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-1683","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>New locus underlying familial adenomatous polyposis: 3.9 MB rearrangement disrupting APC expression (Contributed by Florentine Scharf) - 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\/15\/new-locus-underlying-familial-adenomatous-polyposis-3-9-mb-rearrangement-disrupting-apc-expression\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New locus underlying familial adenomatous polyposis: 3.9 MB rearrangement disrupting APC expression (Contributed by Florentine Scharf) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome caused by changes in the APC gene, but approximately 20% of patients remain unsolved after routine diagnostics. 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