{"id":2149,"date":"2026-02-21T01:00:39","date_gmt":"2026-02-21T01:00:39","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2149"},"modified":"2026-02-22T00:10:10","modified_gmt":"2026-02-22T00:10:10","slug":"end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/21\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\/","title":{"rendered":"End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes (Contributed by Dr. Layla Damen)"},"content":{"rendered":"<p>People with a tumor predisposition syndrome have increased risks of various tumors. The cause is an inherited mutation in a certain gene, usually detected with a DNA-test using blood. Sometimes a novel mutation develops during early embryonic development. The mutation is then not present in all cells, which is called mosaicism. In mosaicism, a blood test may fail to detect the mutation, leading to a delayed diagnosis. This study shows that testing other tissues can identify the mutation and confirm the tumor predisposition syndrome. This provides clarity for affected individuals, improves cancer screening advice, and helps family members understand their own risks and options. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2026\/02\/17\/jmg-2025-111224\">https:\/\/jmg.bmj.com\/content\/early\/2026\/02\/17\/jmg-2025-111224<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>People with a tumor predisposition syndrome have increased risks of various tumors. The cause is an inherited mutation in a certain gene, usually detected with a DNA-test using blood. Sometimes a novel mutation develops during early embryonic development. The mutation is then not present in all cells, which is called mosaicism. In mosaicism, a blood [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/21\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\/\">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-2149","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>End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes (Contributed by Dr. Layla Damen) - 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\/02\/21\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-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=\"End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes (Contributed by Dr. Layla Damen) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"People with a tumor predisposition syndrome have increased risks of various tumors. The cause is an inherited mutation in a certain gene, usually detected with a DNA-test using blood. Sometimes a novel mutation develops during early embryonic development. The mutation is then not present in all cells, which is called mosaicism. In mosaicism, a blood [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2026\/02\/21\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2026-02-21T01:00:39+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:10:10+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\\\/02\\\/21\\\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/21\\\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes (Contributed by Dr. Layla Damen)\",\"datePublished\":\"2026-02-21T01:00:39+00:00\",\"dateModified\":\"2026-02-22T00:10:10+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/21\\\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\\\/\"},\"wordCount\":137,\"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\\\/02\\\/21\\\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/21\\\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2026\\\/02\\\/21\\\/end-of-a-diagnostic-odyssey-the-added-value-of-multi-tissue-analysis-in-the-identification-of-mosaicism-in-tumour-predisposition-syndromes\\\/\",\"name\":\"End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes (Contributed by Dr. Layla Damen) - 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