{"id":645,"date":"2014-04-01T00:14:46","date_gmt":"2014-04-01T00:14:46","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=645"},"modified":"2026-02-25T19:48:24","modified_gmt":"2026-02-25T19:48:24","slug":"rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/01\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\/","title":{"rendered":"RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients (Contributed by Berber Mol)"},"content":{"rendered":"<p>Retinoblastoma is a cancer of the retina that occurs in young children, in the majority of cases initiated by mutations in the <i>RB1<\/i> tumour suppressor gene. About 40% of retinoblastoma patients have a germline <i>RB1<\/i> mutation which gives them a hereditary predisposition to develop retinoblastoma. Knowledge of the presence of an <i>RB1<\/i> mutation can help in clinical care and family planning. The Dutch National Retinoblastoma Register collects information on all Rb patients diagnosed in the Netherlands. In this paper the authors describe the results of <i>RB1<\/i> mutation scanning in 529 Dutch retinoblastoma patients from 433 independent families from the Register. We detected an <i>RB1<\/i> mutation in 92% of familial and non-familial bilateral patients. A total of 187 <i>RB1<\/i> germline mutations were found, including 33 novel mutations. Several three-generation families with incomplete penetrance <i>RB1<\/i> mutations are described. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/03\/31\/jmedgenet-2014-102264\">http:\/\/jmg.bmj.com\/content\/early\/2014\/03\/31\/jmedgenet-2014-102264<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Retinoblastoma is a cancer of the retina that occurs in young children, in the majority of cases initiated by mutations in the RB1 tumour suppressor gene. About 40% of retinoblastoma patients have a germline RB1 mutation which gives them a hereditary predisposition to develop retinoblastoma. Knowledge of the presence of an RB1 mutation can help [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/01\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\/\">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-645","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>RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients (Contributed by Berber Mol) - 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\/2014\/04\/01\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients (Contributed by Berber Mol) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Retinoblastoma is a cancer of the retina that occurs in young children, in the majority of cases initiated by mutations in the RB1 tumour suppressor gene. About 40% of retinoblastoma patients have a germline RB1 mutation which gives them a hereditary predisposition to develop retinoblastoma. Knowledge of the presence of an RB1 mutation can help [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/01\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-04-01T00:14:46+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:48:24+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\\\/2014\\\/04\\\/01\\\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/01\\\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients (Contributed by Berber Mol)\",\"datePublished\":\"2014-04-01T00:14:46+00:00\",\"dateModified\":\"2026-02-25T19:48:24+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/01\\\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\\\/\"},\"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\\\/2014\\\/04\\\/01\\\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/01\\\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/01\\\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\\\/\",\"name\":\"RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients (Contributed by Berber Mol) - 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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":"RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients (Contributed by Berber Mol) - 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\/2014\/04\/01\/rb1-mutation-spectrum-in-a-comprehensive-nationwide-cohort-of-retinoblastoma-patients\/","og_locale":"en_US","og_type":"article","og_title":"RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients (Contributed by Berber Mol) - JMG Contact blog","og_description":"Retinoblastoma is a cancer of the retina that occurs in young children, in the majority of cases initiated by mutations in the RB1 tumour suppressor gene. 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