{"id":158,"date":"2011-06-02T18:32:14","date_gmt":"2011-06-02T18:32:14","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=158"},"modified":"2011-06-02T18:32:14","modified_gmt":"2011-06-02T18:32:14","slug":"determining-the-frequency-of-de-novo-germline-mutations-in-dna-mismatch-repair-genes","status":"publish","type":"post","link":"https:\/\/stg-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"},"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. (By Aung Ko Win<strong> <\/strong>MBBS, MPH, <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:\/\/stg-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":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-158","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/158","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=158"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/158\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=158"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=158"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=158"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}