{"id":1607,"date":"2021-02-26T18:53:02","date_gmt":"2021-02-26T18:53:02","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1607"},"modified":"2026-02-23T23:04:31","modified_gmt":"2026-02-23T23:04:31","slug":"diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/26\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\/","title":{"rendered":"Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group (Contributed by Melyssa Aronson)"},"content":{"rendered":"<p>Constitutional Mismatch Repair Deficiency Syndrome or CMMRD is a rare, hereditary cancer condition impacting mainly children and young adults. CMMRD individuals get malignant cancers of all types but most commonly brain, intestines (colon) and blood cancers.\u00a0 In the past, most of these patients used to die before adulthood, however, nowadays it is very important to identify CMMRD because special treatments and cancer screening is available.<\/p>\n<p>It is very difficult to diagnose CMMRD because it is similar to other conditions and genetic testing alone cannot always confirm the diagnosis.\u00a0 \u00a0An international committee of experts created 7 diagnostic criteria which incorporates genetic testing, patient\u2019s medical history and additional testing, to determine if an individual has a definite or probable diagnosis of CMMRD.\u00a0\u00a0 Using these criteria, clinicians will be able to identify who has this syndrome and implement appropriate cancer treatment, screening and improve survival for these individuals. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/02\/22\/jmedgenet-2020-107627\">https:\/\/jmg.bmj.com\/content\/early\/2021\/02\/22\/jmedgenet-2020-107627<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/26\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\/picture-working-group\/\" rel=\"attachment wp-att-1608\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1608\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/02\/Picture-working-group-300x200.jpg\" alt=\"\" width=\"300\" height=\"200\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/02\/Picture-working-group-300x200.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/02\/Picture-working-group-768x512.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/02\/Picture-working-group-640x427.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/02\/Picture-working-group.jpg 844w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>The group meeting at the International IRRD workshop held in Toronto on Oct 15-16, 2017<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Constitutional Mismatch Repair Deficiency Syndrome or CMMRD is a rare, hereditary cancer condition impacting mainly children and young adults. CMMRD individuals get malignant cancers of all types but most commonly brain, intestines (colon) and blood cancers.\u00a0 In the past, most of these patients used to die before adulthood, however, nowadays it is very important to [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/26\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\/\">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-1607","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>Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group (Contributed by Melyssa Aronson) - 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\/02\/26\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group (Contributed by Melyssa Aronson) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Constitutional Mismatch Repair Deficiency Syndrome or CMMRD is a rare, hereditary cancer condition impacting mainly children and young adults. CMMRD individuals get malignant cancers of all types but most commonly brain, intestines (colon) and blood cancers.\u00a0 In the past, most of these patients used to die before adulthood, however, nowadays it is very important to [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/26\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-02-26T18:53:02+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:04:31+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/02\/Picture-working-group.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"844\" \/>\n\t<meta property=\"og:image:height\" content=\"563\" \/>\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\\\/02\\\/26\\\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/26\\\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group (Contributed by Melyssa Aronson)\",\"datePublished\":\"2021-02-26T18:53:02+00:00\",\"dateModified\":\"2026-02-23T23:04:31+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/26\\\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\\\/\"},\"wordCount\":186,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/26\\\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/02\\\/Picture-working-group-300x200.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/26\\\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/26\\\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/26\\\/diagnostic-criteria-for-constitutional-mismatch-repair-deficiency-cmmrd-recommendations-from-the-international-consensus-working-group\\\/\",\"name\":\"Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group (Contributed by Melyssa Aronson) - 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