{"id":584,"date":"2013-08-26T03:43:11","date_gmt":"2013-08-26T03:43:11","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=584"},"modified":"2026-02-25T19:58:56","modified_gmt":"2026-02-25T19:58:56","slug":"criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/08\/26\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\/","title":{"rendered":"Criteria and prediction models for mismatch repair gene mutations: a review (Contributed by Dr Aung Ko Win)"},"content":{"rendered":"<p>Carrying a mismatch repair gene mutation substantially increases risk of colorectal, endometrial and other cancers (Lynch syndrome). Several criteria have been developed to triage colorectal cancer cases for genetic testing, and several statistical prediction tools have been developed to provide probability of having a mismatch repair gene mutation. We have systematically reviewed each of these criteria and prediction tools for their utility, and conducted a meta-analysis to summarise their accuracy. The prediction tools had a high degree of accuracy and were generally equivalent. This review will be of primary interest to clinical services specialising in the detection of Lynch syndrome. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/08\/16\/jmedgenet-2013-101803\">http:\/\/jmg.bmj.com\/content\/early\/2013\/08\/16\/jmedgenet-2013-101803<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Carrying a mismatch repair gene mutation substantially increases risk of colorectal, endometrial and other cancers (Lynch syndrome). Several criteria have been developed to triage colorectal cancer cases for genetic testing, and several statistical prediction tools have been developed to provide probability of having a mismatch repair gene mutation. We have systematically reviewed each of these [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/08\/26\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\/\">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-584","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Criteria and prediction models for mismatch repair gene mutations: a review (Contributed by Dr Aung Ko Win) - 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\/2013\/08\/26\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Criteria and prediction models for mismatch repair gene mutations: a review (Contributed by Dr Aung Ko Win) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Carrying a mismatch repair gene mutation substantially increases risk of colorectal, endometrial and other cancers (Lynch syndrome). Several criteria have been developed to triage colorectal cancer cases for genetic testing, and several statistical prediction tools have been developed to provide probability of having a mismatch repair gene mutation. We have systematically reviewed each of these [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/08\/26\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-08-26T03:43:11+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:58:56+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\\\/2013\\\/08\\\/26\\\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/08\\\/26\\\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Criteria and prediction models for mismatch repair gene mutations: a review (Contributed by Dr Aung Ko Win)\",\"datePublished\":\"2013-08-26T03:43:11+00:00\",\"dateModified\":\"2026-02-25T19:58:56+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/08\\\/26\\\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\\\/\"},\"wordCount\":125,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/08\\\/26\\\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/08\\\/26\\\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/08\\\/26\\\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\\\/\",\"name\":\"Criteria and prediction models for mismatch repair gene mutations: a review (Contributed by Dr Aung Ko Win) - 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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":"Criteria and prediction models for mismatch repair gene mutations: a review (Contributed by Dr Aung Ko Win) - 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\/2013\/08\/26\/criteria-and-prediction-models-for-mismatch-repair-gene-mutations-a-review\/","og_locale":"en_US","og_type":"article","og_title":"Criteria and prediction models for mismatch repair gene mutations: a review (Contributed by Dr Aung Ko Win) - JMG Contact blog","og_description":"Carrying a mismatch repair gene mutation substantially increases risk of colorectal, endometrial and other cancers (Lynch syndrome). 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