{"id":94,"date":"2011-01-25T20:18:28","date_gmt":"2011-01-25T20:18:28","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=94"},"modified":"2011-01-25T20:18:28","modified_gmt":"2011-01-25T20:18:28","slug":"dicer1-syndrome-%e2%80%93-clarifying-the-diagnosis-clinical-features-and-management-implications-of-a-pleiotropic-tumor-predisposition-syndrome","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/01\/25\/dicer1-syndrome-%e2%80%93-clarifying-the-diagnosis-clinical-features-and-management-implications-of-a-pleiotropic-tumor-predisposition-syndrome\/","title":{"rendered":"DICER1 syndrome \u2013 clarifying the diagnosis, clinical features and management implications of a pleiotropic tumor predisposition syndrome"},"content":{"rendered":"<p>Dicer1 is essential in the production of microRNAs and germline <em>DICER1<\/em> mutations have been reported to cause familial pleuropulmonary blastoma (PPB), a rare childhood lung tumor.\u00a0 Our work defines the phenotype associated with this gene; sporadic and familial PPB, cystic nephroma, ovarian Sertoli-Leydig tumor and cystic thyroid disease.\u00a0 There was no loss of the wildtype allele (second hit) in any tumor therefore <em>DICER1<\/em> does not act as a classical tumor suppressor gene. Most mutation carriers within families are unaffected indicating the risk of tumors is modest. \u00a0Analyses in cancer cell-lines suggest that somatic <em>DICER1<\/em> mutations do not make a substantial contribution to cancer.\u00a0 We define the clinical contexts in which <em>DICER1<\/em> mutation testing should be considered and the implications for at-risk individuals.\u00a0 We have termed this condition \u2018<em>DICER1<\/em> syndrome\u2019. (By Dr. Ingrid Slade, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/01\/24\/jmg.2010.083790?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/01\/24\/jmg.2010.083790?papetoc<\/a>)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Dicer1 is essential in the production of microRNAs and germline DICER1 mutations have been reported to cause familial pleuropulmonary blastoma (PPB), a rare childhood lung tumor.\u00a0 Our work defines the phenotype associated with this gene; sporadic and familial PPB, cystic nephroma, ovarian Sertoli-Leydig tumor and cystic thyroid disease.\u00a0 There was no loss of the wildtype [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/01\/25\/dicer1-syndrome-%e2%80%93-clarifying-the-diagnosis-clinical-features-and-management-implications-of-a-pleiotropic-tumor-predisposition-syndrome\/\">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-94","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\/94","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=94"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/94\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=94"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=94"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=94"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}