{"id":2155,"date":"2026-03-09T19:42:29","date_gmt":"2026-03-09T19:42:29","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2155"},"modified":"2026-03-09T19:42:29","modified_gmt":"2026-03-09T19:42:29","slug":"multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/","title":{"rendered":"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes"},"content":{"rendered":"

Tumour predisposition syndromes are typically diagnosed through blood-based genetic testing. However, pathogenic variants arising early in embryonic development may lead to mosaicism that escapes detection in blood. A recent JMG study shows that analysing multiple tissues can uncover these hidden variants and confirm the underlying genetic diagnosis. Multi-tissue analysis can therefore shorten diagnostic odysseys, improve cancer surveillance strategies, and clarify risk for affected individuals and their families. The findings highlight the clinical importance of considering mosaicism in hereditary cancer genetics. (https:\/\/doi.org\/10.1136\/jmg-2025-111224<\/a>)<\/p>\n","protected":false},"excerpt":{"rendered":"

Tumour predisposition syndromes are typically diagnosed through blood-based genetic testing. However, pathogenic variants arising early in embryonic development may lead to mosaicism that escapes detection in blood. A recent JMG study shows that analysing multiple tissues can uncover these hidden variants and confirm the underlying genetic diagnosis. Multi-tissue analysis can therefore shorten diagnostic odysseys, improve […]<\/p>\n

Read More…<\/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-2155","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMulti-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes - 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\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Tumour predisposition syndromes are typically diagnosed through blood-based genetic testing. However, pathogenic variants arising early in embryonic development may lead to mosaicism that escapes detection in blood. A recent JMG study shows that analysing multiple tissues can uncover these hidden variants and confirm the underlying genetic diagnosis. Multi-tissue analysis can therefore shorten diagnostic odysseys, improve [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-03-09T19:42:29+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\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes\",\"datePublished\":\"2026-03-09T19:42:29+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/\"},\"wordCount\":95,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/\",\"name\":\"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2026-03-09T19:42:29+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/03\\\/09\\\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes\"}]},{\"@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":"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes - 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\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/","og_locale":"en_US","og_type":"article","og_title":"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes - JMG Contact blog","og_description":"Tumour predisposition syndromes are typically diagnosed through blood-based genetic testing. However, pathogenic variants arising early in embryonic development may lead to mosaicism that escapes detection in blood. A recent JMG study shows that analysing multiple tissues can uncover these hidden variants and confirm the underlying genetic diagnosis. Multi-tissue analysis can therefore shorten diagnostic odysseys, improve [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/","og_site_name":"JMG Contact blog","article_published_time":"2026-03-09T19:42:29+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\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes","datePublished":"2026-03-09T19:42:29+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/"},"wordCount":95,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/","url":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/","name":"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2026-03-09T19:42:29+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2026\/03\/09\/multi-tissue-analysis-improves-diagnosis-of-mosaicism-in-tumour-predisposition-syndromes\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Multi-tissue analysis improves diagnosis of mosaicism in tumour predisposition syndromes"}]},{"@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\/2155","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=2155"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/2155\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=2155"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=2155"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=2155"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}