{"id":1643,"date":"2021-06-27T16:27:40","date_gmt":"2021-06-27T16:27:40","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1643"},"modified":"2026-02-23T21:16:56","modified_gmt":"2026-02-23T21:16:56","slug":"prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\/","title":{"rendered":"Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population (Contributed by Dr. San Ming Wang)"},"content":{"rendered":"<p>DNA mismatch repair (MMR) genes of <em>MLH1<\/em>, <em>MSH2<\/em>, <em>MSH6<\/em> and <em>PMS2<\/em> play essential roles in maintaining microsatellite stability through DNA mismatch repair, pathogenic variation in MMR genes causes microsatellite instability and high cancer risk as represented by the Lynch syndrome. We identified 17,687 MMR variants from 18,844 ethnic Chinese individuals. We characterized the basic biological features of MMR variation and determined MMR pathogenic prevalence of 0.17% in the general Chinese population. Our study provides a comprehensive view of MMR variation in human population, a resource for study of human MMR variation, and a reference for MMR-related cancer applications. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/06\/25\/jmedgenet-2021-107886\">https:\/\/jmg.bmj.com\/content\/early\/2021\/06\/25\/jmedgenet-2021-107886<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\/group-photo\/\" rel=\"attachment wp-att-1644\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1644\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/06\/group-photo-225x300.jpeg\" alt=\"\" width=\"225\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/06\/group-photo-225x300.jpeg 225w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/06\/group-photo-768x1024.jpeg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/06\/group-photo-640x853.jpeg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/06\/group-photo.jpeg 1080w\" sizes=\"auto, (max-width: 225px) 100vw, 225px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>DNA mismatch repair (MMR) genes of MLH1, MSH2, MSH6 and PMS2 play essential roles in maintaining microsatellite stability through DNA mismatch repair, pathogenic variation in MMR genes causes microsatellite instability and high cancer risk as represented by the Lynch syndrome. We identified 17,687 MMR variants from 18,844 ethnic Chinese individuals. We characterized the basic biological [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\/\">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-1643","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>Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population (Contributed by Dr. San Ming Wang) - 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\/06\/27\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population (Contributed by Dr. San Ming Wang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"DNA mismatch repair (MMR) genes of MLH1, MSH2, MSH6 and PMS2 play essential roles in maintaining microsatellite stability through DNA mismatch repair, pathogenic variation in MMR genes causes microsatellite instability and high cancer risk as represented by the Lynch syndrome. We identified 17,687 MMR variants from 18,844 ethnic Chinese individuals. We characterized the basic biological [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/06\/27\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-06-27T16:27:40+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:16:56+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/06\/group-photo.jpeg\" \/>\n\t<meta property=\"og:image:width\" content=\"1080\" \/>\n\t<meta property=\"og:image:height\" content=\"1440\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2021\\\/06\\\/27\\\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population (Contributed by Dr. San Ming Wang)\",\"datePublished\":\"2021-06-27T16:27:40+00:00\",\"dateModified\":\"2026-02-23T21:16:56+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\\\/\"},\"wordCount\":123,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/06\\\/group-photo-225x300.jpeg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/06\\\/27\\\/prevalence-and-spectrum-of-dna-mismatch-repair-gene-variation-in-the-general-chinese-population\\\/\",\"name\":\"Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population (Contributed by Dr. San Ming Wang) - 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