{"id":876,"date":"2016-04-08T19:37:41","date_gmt":"2016-04-08T19:37:41","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=876"},"modified":"2026-02-25T00:11:34","modified_gmt":"2026-02-25T00:11:34","slug":"naturally-occurring-brca2-alternate-mrna-splicing-events-in-clinically-relevant-samples","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/08\/naturally-occurring-brca2-alternate-mrna-splicing-events-in-clinically-relevant-samples\/","title":{"rendered":"Naturally occurring BRCA2 alternate mRNA splicing events in clinically relevant samples (Contributed by Dr. James D. Fackenthal)"},"content":{"rendered":"<p>Genetic testing of <em>BRCA1<\/em> and <em>BRCA2<\/em> genes in cancer patients frequently reveals gene variations with unknown clinical effects.\u00a0 Some of these variations might affect mRNA splicing, an important step in gene expression. \u00a0Aberrant splicing is typically determined by looking for novel mRNA molecules.\u00a0 We wanted to know if these molecules could also occur at random.\u00a0 We found there are 24 different splicing events in <em>BRCA2<\/em> that appear in some, but not all mRNA samples examined, and may be random events.\u00a0 This work shows that novel mRNA molecules are not sufficient to conclude that a gene variation is a disease-causing mutation. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/08\/jmedgenet-2015-103570\">http:\/\/jmg.bmj.com\/content\/early\/2016\/04\/08\/jmedgenet-2015-103570<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Figure-3.jpg\" rel=\"attachment wp-att-877\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-877\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Figure-3-300x225.jpg\" alt=\"Figure 3\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Figure-3-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Figure-3-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Figure-3.jpg 960w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genetic testing of BRCA1 and BRCA2 genes in cancer patients frequently reveals gene variations with unknown clinical effects.\u00a0 Some of these variations might affect mRNA splicing, an important step in gene expression. \u00a0Aberrant splicing is typically determined by looking for novel mRNA molecules.\u00a0 We wanted to know if these molecules could also occur at random.\u00a0 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/08\/naturally-occurring-brca2-alternate-mrna-splicing-events-in-clinically-relevant-samples\/\">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-876","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>Naturally occurring BRCA2 alternate mRNA splicing events in clinically relevant samples (Contributed by Dr. James D. Fackenthal) - 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\/2016\/04\/08\/naturally-occurring-brca2-alternate-mrna-splicing-events-in-clinically-relevant-samples\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Naturally occurring BRCA2 alternate mRNA splicing events in clinically relevant samples (Contributed by Dr. James D. Fackenthal) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Genetic testing of BRCA1 and BRCA2 genes in cancer patients frequently reveals gene variations with unknown clinical effects.\u00a0 Some of these variations might affect mRNA splicing, an important step in gene expression. \u00a0Aberrant splicing is typically determined by looking for novel mRNA molecules.\u00a0 We wanted to know if these molecules could also occur at random.\u00a0 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/04\/08\/naturally-occurring-brca2-alternate-mrna-splicing-events-in-clinically-relevant-samples\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-04-08T19:37:41+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:11:34+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/04\/Figure-3.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"960\" \/>\n\t<meta property=\"og:image:height\" content=\"720\" \/>\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\\\/2016\\\/04\\\/08\\\/naturally-occurring-brca2-alternate-mrna-splicing-events-in-clinically-relevant-samples\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/04\\\/08\\\/naturally-occurring-brca2-alternate-mrna-splicing-events-in-clinically-relevant-samples\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Naturally occurring BRCA2 alternate mRNA splicing events in clinically relevant samples (Contributed by Dr. James D. 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