{"id":277,"date":"2012-03-05T20:11:54","date_gmt":"2012-03-05T20:11:54","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=277"},"modified":"2012-03-06T00:10:03","modified_gmt":"2012-03-06T00:10:03","slug":"cdkn2a-is-the-main-susceptibility-gene-in-italian-pancreatic-cancer-families","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/03\/05\/cdkn2a-is-the-main-susceptibility-gene-in-italian-pancreatic-cancer-families\/","title":{"rendered":"CDKN2A is the main susceptibility gene in Italian pancreatic cancer families"},"content":{"rendered":"<p>Pancreatic adenocarcinoma (PC) is the deadliest among common cancers. Because PC progresses rapidly, identifying individuals with a high genetic risk of developing PC is critical to better define emerging strategies for the detection of\u00a0 early lesions. PC is familial in roughly 10% of patients. Germline mutations in <em>CDKN2A<\/em>, the major melanoma susceptibility gene, are detected in 30-40% of patients with the melanoma-PC and the familial atypical multiple mole melanoma-PC syndromes, but are considered to play a minor role in familial PC (FPC). Our study identified <em>CDKN2A<\/em> mutations in 31% of patients with FPC, suggesting that <em>CDKN2A<\/em> is the main susceptibility gene in Italian FPC families, although melanoma is not a feature of FPC and was not recorded in these patients or their families. The mutation frequency ranged from 20% in FPC families with two affected members to 50% in families with three. Our findings\u00a0 may be of\u00a0 value to the purposes of identifying the best candidates for \u00a0future PC screening trials in Italy. (By Dr Paola Ghiorzo, <a href=\"http:\/\/jmg.bmj.com\/content\/49\/3\/164\">http:\/\/jmg.bmj.com\/content\/49\/3\/164<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pancreatic adenocarcinoma (PC) is the deadliest among common cancers. Because PC progresses rapidly, identifying individuals with a high genetic risk of developing PC is critical to better define emerging strategies for the detection of\u00a0 early lesions. PC is familial in roughly 10% of patients. Germline mutations in CDKN2A, the major melanoma susceptibility gene, are detected [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/03\/05\/cdkn2a-is-the-main-susceptibility-gene-in-italian-pancreatic-cancer-families\/\">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-277","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\/277","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=277"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/277\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=277"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=277"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=277"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}