{"id":1871,"date":"2023-08-07T13:16:56","date_gmt":"2023-08-07T13:16:56","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1871"},"modified":"2026-02-23T00:00:37","modified_gmt":"2026-02-23T00:00:37","slug":"prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\/","title":{"rendered":"Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes (Contributed by Giovana Tardin Torrezan, PhD)"},"content":{"rendered":"<p>Sarcomas are a group of rare cancers that mainly affect young people. We aimed to understand the genetic causes of sarcomas by analyzing a group of genes in 177 Brazilian children, adolescents, and young adults with sarcomas. We showed that 21.5% of these patients had harmful genetic variants that could raise the risk of developing sarcomas. Some of these variants were previously linked to sarcoma risk, while others were new discoveries. The study highlights the need for genetic testing strategies for sarcoma patients and their families and may influence future research and clinical practice in terms of genetic screening recommendations. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/08\/03\/jmg-2023-109269\">https:\/\/jmg.bmj.com\/content\/early\/2023\/08\/03\/jmg-2023-109269<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\/group-gt\/\" rel=\"attachment wp-att-1872\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1872\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT-248x300.jpg\" alt=\"\" width=\"248\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT-248x300.jpg 248w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT-846x1024.jpg 846w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT-768x929.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT-1270x1536.jpg 1270w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT-1693x2048.jpg 1693w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT-640x774.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT.jpg 1731w\" sizes=\"auto, (max-width: 248px) 100vw, 248px\" \/><\/a><\/p>\n<p>Dr. Torrezan&#8217;s research group<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Sarcomas are a group of rare cancers that mainly affect young people. We aimed to understand the genetic causes of sarcomas by analyzing a group of genes in 177 Brazilian children, adolescents, and young adults with sarcomas. We showed that 21.5% of these patients had harmful genetic variants that could raise the risk of developing [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\/\">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-1871","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes (Contributed by Giovana Tardin Torrezan, PhD) - 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\/2023\/08\/07\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes (Contributed by Giovana Tardin Torrezan, PhD) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Sarcomas are a group of rare cancers that mainly affect young people. We aimed to understand the genetic causes of sarcomas by analyzing a group of genes in 177 Brazilian children, adolescents, and young adults with sarcomas. We showed that 21.5% of these patients had harmful genetic variants that could raise the risk of developing [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/08\/07\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-08-07T13:16:56+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:00:37+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/08\/Group-GT.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1731\" \/>\n\t<meta property=\"og:image:height\" content=\"2094\" \/>\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\\\/2023\\\/08\\\/07\\\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes (Contributed by Giovana Tardin Torrezan, PhD)\",\"datePublished\":\"2023-08-07T13:16:56+00:00\",\"dateModified\":\"2026-02-23T00:00:37+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\\\/\"},\"wordCount\":135,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/08\\\/Group-GT-248x300.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/08\\\/07\\\/prevalence-and-clinical-implications-of-germline-pathogenic-variants-in-cancer-predisposing-genes-in-young-patients-across-sarcoma-subtypes\\\/\",\"name\":\"Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes (Contributed by Giovana Tardin Torrezan, PhD) - 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