{"id":1182,"date":"2018-10-04T18:17:20","date_gmt":"2018-10-04T18:17:20","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1182"},"modified":"2026-02-24T15:39:25","modified_gmt":"2026-02-24T15:39:25","slug":"investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/10\/04\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\/","title":{"rendered":"Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature (Contributed by Dianne Sylvester)"},"content":{"rendered":"<p>Genomic technologies have enabled the sequencing of childhood cancer patients to investigate genetic predisposition. This review compares 6 studies of selected cohorts of childhood cancer patients reporting clinically relevant pathogenic germline variants in a broad spectrum of genes associated with susceptibility to both adult and paediatric cancers. We identified differences in the reported incidence of pathogenic or likely pathogenic germline variants, and incompletely overlapping gene sets interpreted as clinically relevant, with further research required to investigate the role of variants in genes associated with adult onset cancers. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2018\/10\/03\/jmedgenet-2018-105488\">https:\/\/jmg.bmj.com\/content\/early\/2018\/10\/03\/jmedgenet-2018-105488<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genomic technologies have enabled the sequencing of childhood cancer patients to investigate genetic predisposition. This review compares 6 studies of selected cohorts of childhood cancer patients reporting clinically relevant pathogenic germline variants in a broad spectrum of genes associated with susceptibility to both adult and paediatric cancers. We identified differences in the reported incidence of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/10\/04\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\/\">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-1182","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>Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature (Contributed by Dianne Sylvester) - 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\/2018\/10\/04\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature (Contributed by Dianne Sylvester) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Genomic technologies have enabled the sequencing of childhood cancer patients to investigate genetic predisposition. This review compares 6 studies of selected cohorts of childhood cancer patients reporting clinically relevant pathogenic germline variants in a broad spectrum of genes associated with susceptibility to both adult and paediatric cancers. We identified differences in the reported incidence of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/10\/04\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-10-04T18:17:20+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:39:25+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\\\/2018\\\/10\\\/04\\\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/10\\\/04\\\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature (Contributed by Dianne Sylvester)\",\"datePublished\":\"2018-10-04T18:17:20+00:00\",\"dateModified\":\"2026-02-24T15:39:25+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/10\\\/04\\\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\\\/\"},\"wordCount\":118,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/10\\\/04\\\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/10\\\/04\\\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/10\\\/04\\\/investigation-of-clinically-relevant-germline-variants-detected-by-next-generation-sequencing-in-patients-with-childhood-cancer-a-review-of-the-literature\\\/\",\"name\":\"Investigation of clinically relevant germline variants detected by next-generation sequencing in patients with childhood cancer: a review of the literature (Contributed by Dianne Sylvester) - 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