{"id":536,"date":"2013-05-24T18:42:07","date_gmt":"2013-05-24T18:42:07","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=536"},"modified":"2013-05-24T18:42:07","modified_gmt":"2013-05-24T18:42:07","slug":"refining-the-role-of-pms2-in-lynch-syndrome-germline-mutational-analysis-improved-by-comprehensive-assessment-of-variants","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/05\/24\/refining-the-role-of-pms2-in-lynch-syndrome-germline-mutational-analysis-improved-by-comprehensive-assessment-of-variants\/","title":{"rendered":"Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants"},"content":{"rendered":"<p>Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by germline mutations in mismatch repair genes. Borr\u00e0s and collaborators assessed the pathogenicity of variants of unknown significance detected in the mutational analysis of <i>PMS2 <\/i>gene<i> <\/i>using a comprehensive strategy. Pathogenic <i>PMS2<\/i> mutations were detected in 9 of 13 (69%) candidate patients: seven alterations based on their molecular nature and two after demonstrating a functional defect. In all <i>PMS2 <\/i>mutations account for 6% of the LS cases. The comprehensive functional analysis performed has been useful in the classification of <i>PMS2<\/i> VUS and contributes in refining the role of <i>PMS2 <\/i>in LS. (By Dr Gabriel Capell\u00e1 and Dr Marta Pineda, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/05\/23\/jmedgenet-2012-101511\">http:\/\/jmg.bmj.com\/content\/early\/2013\/05\/23\/jmedgenet-2012-101511<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by germline mutations in mismatch repair genes. Borr\u00e0s and collaborators assessed the pathogenicity of variants of unknown significance detected in the mutational analysis of PMS2 gene using a comprehensive strategy. Pathogenic PMS2 mutations were detected in 9 of 13 (69%) candidate patients: seven [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/05\/24\/refining-the-role-of-pms2-in-lynch-syndrome-germline-mutational-analysis-improved-by-comprehensive-assessment-of-variants\/\">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-536","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\/536","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=536"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/536\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=536"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=536"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=536"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}