{"id":857,"date":"2016-01-19T19:48:28","date_gmt":"2016-01-19T19:48:28","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=857"},"modified":"2016-01-19T19:48:28","modified_gmt":"2016-01-19T19:48:28","slug":"multigene-testing-of-moderate-risk-genes-be-mindful-of-the-missense","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/01\/19\/multigene-testing-of-moderate-risk-genes-be-mindful-of-the-missense\/","title":{"rendered":"Multigene testing of moderate-risk genes: be mindful of the missense"},"content":{"rendered":"<p>What fraction of early-onset breast cancer patients inherited a clinically actionable moderate-risk genotype? To estimate this, we applied both multi-gene mutation screening and SNP genotyping to 1,297 early onset breast cancer cases and 1,121 controls. Mutation screening revealed that 2.1% of the cases carried an obviously pathogenic protein-truncating variant in one of nine moderate-risk genes, plus 5.4% carried a missense substitution with a high-probability of pathogenicity. In addition, 2.1% carried a notable excess of individually modest-risk SNPs. Thus, beyond mutations in high-risk genes such as BRCA1 and BRCA2, a further 9.6% of early onset cases inherited an actionable moderate-risk genotype. (By Erin Young, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/19\/jmedgenet-2015-103398\">http:\/\/jmg.bmj.com\/content\/early\/2016\/01\/19\/jmedgenet-2015-103398<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>What fraction of early-onset breast cancer patients inherited a clinically actionable moderate-risk genotype? To estimate this, we applied both multi-gene mutation screening and SNP genotyping to 1,297 early onset breast cancer cases and 1,121 controls. Mutation screening revealed that 2.1% of the cases carried an obviously pathogenic protein-truncating variant in one of nine moderate-risk genes, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2016\/01\/19\/multigene-testing-of-moderate-risk-genes-be-mindful-of-the-missense\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-857","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/857","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=857"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/857\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=857"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=857"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=857"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}