{"id":1100,"date":"2018-02-22T19:45:34","date_gmt":"2018-02-22T19:45:34","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1100"},"modified":"2026-02-24T15:59:23","modified_gmt":"2026-02-24T15:59:23","slug":"comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/02\/22\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\/","title":{"rendered":"Comprehensive analysis of the MLH1 promoter region  in 480 colorectal cancer patients and 1,150 controls  reveals new variants including one with a heritable constitutional MLH1 epimutation (Contributed by Dr. Monika Morak)"},"content":{"rendered":"<p>Most MLH1 germline defects predisposing for Lynch Syndrome constitute sequence changes or deletions in the coding region.<\/p>\n<p>Searching for variants in the MLH1 promoter causative for silencing or methylation, we sequenced the extended MLH1 promoter region for 480 colorectal cancer patients and 1,150 controls. We detected ten rare promoter variants. One was found in in a patient with constitutional MLH1 epimutation as disease causing mutation in the family, being the second heritable epimutation in MLH1 published so far. \u00a0Nine variants were not associated with methylation or allel silencing, pointing out that promoter variants are rarely conferring a hereditary MLH1 defect. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2018\/02\/22\/jmedgenet-2017-104744\">http:\/\/jmg.bmj.com\/content\/early\/2018\/02\/22\/jmedgenet-2017-104744<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Most MLH1 germline defects predisposing for Lynch Syndrome constitute sequence changes or deletions in the coding region. Searching for variants in the MLH1 promoter causative for silencing or methylation, we sequenced the extended MLH1 promoter region for 480 colorectal cancer patients and 1,150 controls. We detected ten rare promoter variants. One was found in in [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/02\/22\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\/\">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-1100","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>Comprehensive analysis of the MLH1 promoter region in 480 colorectal cancer patients and 1,150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation (Contributed by Dr. Monika Morak) - 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\/2018\/02\/22\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Comprehensive analysis of the MLH1 promoter region in 480 colorectal cancer patients and 1,150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation (Contributed by Dr. Monika Morak) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Most MLH1 germline defects predisposing for Lynch Syndrome constitute sequence changes or deletions in the coding region. Searching for variants in the MLH1 promoter causative for silencing or methylation, we sequenced the extended MLH1 promoter region for 480 colorectal cancer patients and 1,150 controls. We detected ten rare promoter variants. One was found in in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/02\/22\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-02-22T19:45:34+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:59:23+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\\\/2018\\\/02\\\/22\\\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/22\\\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Comprehensive analysis of the MLH1 promoter region in 480 colorectal cancer patients and 1,150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation (Contributed by Dr. Monika Morak)\",\"datePublished\":\"2018-02-22T19:45:34+00:00\",\"dateModified\":\"2026-02-24T15:59:23+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/22\\\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\\\/\"},\"wordCount\":135,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/22\\\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/22\\\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/22\\\/comprehensive-analysis-of-the-mlh1-promoter-region-in-480-colorectal-cancer-patients-and-1150-controls-reveals-new-variants-including-one-with-a-heritable-constitutional-mlh1-epimutation\\\/\",\"name\":\"Comprehensive analysis of the MLH1 promoter region in 480 colorectal cancer patients and 1,150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation (Contributed by Dr. Monika Morak) - 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