{"id":733,"date":"2015-02-02T21:13:09","date_gmt":"2015-02-02T21:13:09","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=733"},"modified":"2026-02-25T01:11:12","modified_gmt":"2026-02-25T01:11:12","slug":"brca1-circos-a-visualisation-resource-for-functional-analysis-of-missense-variants","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/02\/02\/brca1-circos-a-visualisation-resource-for-functional-analysis-of-missense-variants\/","title":{"rendered":"BRCA1 Circos: a visualisation resource for functional analysis of missense variants (Contributed by Dr. Alvaro N. Monteiro)"},"content":{"rendered":"<p>Carriers of germline pathogenic variants in BRCA1 have a significantly increased risk of breast and ovarian cancers. However, genetic testing may also uncover a variant of unknown significance (VUS). Due to the rarity of these variants clinical and family data are usually lacking to determine cancer risk association. Functional assays can be used to assess the impact of these VUS on the function of protein. We have developed a web-based visualization tool to depict all published functional data on missense VUS in BRCA1. This tool provides a comprehensive publically-available resource to aid in the assessment of BRCA1 VUS. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/02\/02\/jmedgenet-2014-102766\">http:\/\/jmg.bmj.com\/content\/early\/2015\/02\/02\/jmedgenet-2014-102766<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/02\/Figure-for-blog.png\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-734\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/02\/Figure-for-blog-300x288.png\" alt=\"Figure for blog\" width=\"300\" height=\"288\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/02\/Figure-for-blog-300x288.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/02\/Figure-for-blog-1024x983.png 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Carriers of germline pathogenic variants in BRCA1 have a significantly increased risk of breast and ovarian cancers. However, genetic testing may also uncover a variant of unknown significance (VUS). Due to the rarity of these variants clinical and family data are usually lacking to determine cancer risk association. Functional assays can be used to assess [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/02\/02\/brca1-circos-a-visualisation-resource-for-functional-analysis-of-missense-variants\/\">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-733","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>BRCA1 Circos: a visualisation resource for functional analysis of missense variants (Contributed by Dr. Alvaro N. Monteiro) - 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\/2015\/02\/02\/brca1-circos-a-visualisation-resource-for-functional-analysis-of-missense-variants\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"BRCA1 Circos: a visualisation resource for functional analysis of missense variants (Contributed by Dr. Alvaro N. Monteiro) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Carriers of germline pathogenic variants in BRCA1 have a significantly increased risk of breast and ovarian cancers. However, genetic testing may also uncover a variant of unknown significance (VUS). Due to the rarity of these variants clinical and family data are usually lacking to determine cancer risk association. Functional assays can be used to assess [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/02\/02\/brca1-circos-a-visualisation-resource-for-functional-analysis-of-missense-variants\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-02-02T21:13:09+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T01:11:12+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/02\/Figure-for-blog.png\" \/>\n\t<meta property=\"og:image:width\" content=\"3815\" \/>\n\t<meta property=\"og:image:height\" content=\"3663\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2015\\\/02\\\/02\\\/brca1-circos-a-visualisation-resource-for-functional-analysis-of-missense-variants\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/02\\\/02\\\/brca1-circos-a-visualisation-resource-for-functional-analysis-of-missense-variants\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"BRCA1 Circos: a visualisation resource for functional analysis of missense variants (Contributed by Dr. Alvaro N. 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