{"id":158,"date":"2011-06-02T18:32:14","date_gmt":"2011-06-02T18:32:14","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=158"},"modified":"2026-02-25T21:07:52","modified_gmt":"2026-02-25T21:07:52","slug":"determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/","title":{"rendered":"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH)"},"content":{"rendered":"<p>People, who carry a mutation in a DNA mismatch repair (MMR) gene i.e. people with Lynch syndrome, have a high risk of bowel, uterus and several other cancers. The proportion of these people whose mutation is <em>de novo<\/em> (not inherited from either parent) is not known. In this paper, we report six bowel cancer cases with <em>de novo<\/em> mutations in MMR genes (two in <em>MLH1<\/em>, three in <em>MSH2<\/em>, and one in <em>MSH6<\/em>) and estimate the frequency of MMR mutations that are <em>de novo<\/em> to be between 1 in 100 (1%) and 1 in 20 (5%). <em>De novo<\/em> MMR gene mutations are uncommon causes of Lynch syndrome. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/06\/02\/jmedgenet-2011-100082.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/06\/02\/jmedgenet-2011-100082.abstract?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>People, who carry a mutation in a DNA mismatch repair (MMR) gene i.e. people with Lynch syndrome, have a high risk of bowel, uterus and several other cancers. The proportion of these people whose mutation is de novo (not inherited from either parent) is not known. In this paper, we report six bowel cancer cases [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/\">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-158","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>Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH) - 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\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"People, who carry a mutation in a DNA mismatch repair (MMR) gene i.e. people with Lynch syndrome, have a high risk of bowel, uterus and several other cancers. The proportion of these people whose mutation is de novo (not inherited from either parent) is not known. In this paper, we report six bowel cancer cases [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-06-02T18:32:14+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T21:07:52+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\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH)\",\"datePublished\":\"2011-06-02T18:32:14+00:00\",\"dateModified\":\"2026-02-25T21:07:52+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/\"},\"wordCount\":131,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/\",\"name\":\"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2011-06-02T18:32:14+00:00\",\"dateModified\":\"2026-02-25T21:07:52+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/06\\\/02\\\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH)\"}]},{\"@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":"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH) - 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\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/","og_locale":"en_US","og_type":"article","og_title":"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH) - JMG Contact blog","og_description":"People, who carry a mutation in a DNA mismatch repair (MMR) gene i.e. people with Lynch syndrome, have a high risk of bowel, uterus and several other cancers. The proportion of these people whose mutation is de novo (not inherited from either parent) is not known. In this paper, we report six bowel cancer cases [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/","og_site_name":"JMG Contact blog","article_published_time":"2011-06-02T18:32:14+00:00","article_modified_time":"2026-02-25T21:07:52+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\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH)","datePublished":"2011-06-02T18:32:14+00:00","dateModified":"2026-02-25T21:07:52+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/"},"wordCount":131,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/","url":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/","name":"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2011-06-02T18:32:14+00:00","dateModified":"2026-02-25T21:07:52+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/06\/02\/determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Determining the frequency of de novo germline mutations in DNA mismatch repair genes (Contributed by Aung Ko Win MBBS, MPH)"}]},{"@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\/158","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=158"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/158\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=158"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=158"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=158"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}