{"id":1617,"date":"2021-03-25T02:39:20","date_gmt":"2021-03-25T02:39:20","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1617"},"modified":"2026-02-23T23:00:26","modified_gmt":"2026-02-23T23:00:26","slug":"high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/","title":{"rendered":"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen)"},"content":{"rendered":"

Women diagnosed with breast cancer at a very early age (\u226430 years) are more likely to have a genetic predisposition. \u00a0Pathogenic variants in BRCA1, BRCA2<\/em> and TP53<\/em> are often associated with an early onset of disease. However, the association is unclear for other breast cancer associated genes. Here, we assessed the contribution of pathogenic variants in BRCA1, BRCA2, TP53<\/em> and eight other breast cancer associated genes in 379 women diagnosed with breast cancer at the age of \u226430 years. The vast majority of pathogenic variants found were in BRCA1, BRCA2,<\/em> and TP53<\/em> (n=132), whereas only ten actionable pathogenic variants were detected in other genes.\u00a0 This indicates that there is little benefit for testing beyond these three genes in young women diagnosed with breast cancer. \u00a0<\/em>(https:\/\/jmg.bmj.com\/content\/early\/2021\/03\/23\/jmedgenet-2020-107347<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Women diagnosed with breast cancer at a very early age (\u226430 years) are more likely to have a genetic predisposition. \u00a0Pathogenic variants in BRCA1, BRCA2 and TP53 are often associated with an early onset of disease. However, the association is unclear for other breast cancer associated genes. Here, we assessed the contribution of pathogenic variants […]<\/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-1617","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nHigh likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen) - 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\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Women diagnosed with breast cancer at a very early age (\u226430 years) are more likely to have a genetic predisposition. \u00a0Pathogenic variants in BRCA1, BRCA2 and TP53 are often associated with an early onset of disease. However, the association is unclear for other breast cancer associated genes. Here, we assessed the contribution of pathogenic variants [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-03-25T02:39:20+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:00:26+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\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen)\",\"datePublished\":\"2021-03-25T02:39:20+00:00\",\"dateModified\":\"2026-02-23T23:00:26+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/\"},\"wordCount\":153,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/\",\"name\":\"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2021-03-25T02:39:20+00:00\",\"dateModified\":\"2026-02-23T23:00:26+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/03\\\/25\\\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen)\"}]},{\"@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":"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen) - 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\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/","og_locale":"en_US","og_type":"article","og_title":"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen) - JMG Contact blog","og_description":"Women diagnosed with breast cancer at a very early age (\u226430 years) are more likely to have a genetic predisposition. \u00a0Pathogenic variants in BRCA1, BRCA2 and TP53 are often associated with an early onset of disease. However, the association is unclear for other breast cancer associated genes. Here, we assessed the contribution of pathogenic variants [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/","og_site_name":"JMG Contact blog","article_published_time":"2021-03-25T02:39:20+00:00","article_modified_time":"2026-02-23T23:00:26+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\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen)","datePublished":"2021-03-25T02:39:20+00:00","dateModified":"2026-02-23T23:00:26+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/"},"wordCount":153,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/","url":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/","name":"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2021-03-25T02:39:20+00:00","dateModified":"2026-02-23T23:00:26+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/03\/25\/high-likelihood-of-actionable-pathogenic-variant-detection-in-breast-cancer-genes-in-women-with-very-early-onset-breast-cancer\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer (Contributed by Elke van Veen)"}]},{"@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\/1617","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=1617"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1617\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1617"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1617"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1617"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}