{"id":536,"date":"2013-05-24T18:42:07","date_gmt":"2013-05-24T18:42:07","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=536"},"modified":"2026-02-25T20:11:02","modified_gmt":"2026-02-25T20:11:02","slug":"refining-the-role-of-pms2-in-lynch-syndrome-germline-mutational-analysis-improved-by-comprehensive-assessment-of-variants","status":"publish","type":"post","link":"https:\/\/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 (Contributed by Dr Gabriel Capell\u00e1 and Dr Marta Pineda)"},"content":{"rendered":"

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 <\/i>gene <\/i>using a comprehensive strategy. Pathogenic 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 PMS2 <\/i>mutations account for 6% of the LS cases. The comprehensive functional analysis performed has been useful in the classification of PMS2<\/i> VUS and contributes in refining the role of PMS2 <\/i>in LS. (http:\/\/jmg.bmj.com\/content\/early\/2013\/05\/23\/jmedgenet-2012-101511<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

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 […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-536","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nRefining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants (Contributed by Dr Gabriel Capell\u00e1 and Dr Marta Pineda) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/24\/refining-the-role-of-pms2-in-lynch-syndrome-germline-mutational-analysis-improved-by-comprehensive-assessment-of-variants\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants (Contributed by Dr Gabriel Capell\u00e1 and Dr Marta Pineda) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by germline mutations in mismatch repair genes. 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