{"id":751,"date":"2015-04-24T18:50:28","date_gmt":"2015-04-24T18:50:28","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=751"},"modified":"2015-04-24T18:50:28","modified_gmt":"2015-04-24T18:50:28","slug":"a-germline-mutation-in-pbrm1-predisposes-to-renal-cell-carcinoma","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/04\/24\/a-germline-mutation-in-pbrm1-predisposes-to-renal-cell-carcinoma\/","title":{"rendered":"A germline mutation in PBRM1 predisposes to renal cell carcinoma"},"content":{"rendered":"<p>Many cases of familial renal cell carcinoma (RCC) are unexplained by mutations in known predisposing genes or shared environmental factors. We have shown that <em>PBRM1<\/em>, a tumor supressor gene with frequent somatic mutations in clear cell RCC, is also a RCC susceptibility gene. Indeed, four members from the same family, all with a history of RCC, carried the same germline pathogenic mutation in <em>PBRM1<\/em>, whereas an unaffected relative did not. Complementary analyses supported our findings as there was loss of the wild-type allele and absence of expression of the normal protein in tumoral tissue extracted from the patients RCCs. (By Patrick R Benusiglio, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/04\/23\/jmedgenet-2014-102912\">http:\/\/jmg.bmj.com\/content\/early\/2015\/04\/23\/jmedgenet-2014-102912<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Many cases of familial renal cell carcinoma (RCC) are unexplained by mutations in known predisposing genes or shared environmental factors. We have shown that PBRM1, a tumor supressor gene with frequent somatic mutations in clear cell RCC, is also a RCC susceptibility gene. Indeed, four members from the same family, all with a history of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/04\/24\/a-germline-mutation-in-pbrm1-predisposes-to-renal-cell-carcinoma\/\">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-751","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\/751","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=751"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/751\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=751"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=751"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=751"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}