{"id":736,"date":"2015-02-17T19:28:00","date_gmt":"2015-02-17T19:28:00","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=736"},"modified":"2026-02-25T01:10:52","modified_gmt":"2026-02-25T01:10:52","slug":"a-homozygous-pms2-founder-mutation-with-an-attenuated-constitutional-mismatch-repair-deficiency-phenotype","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/02\/17\/a-homozygous-pms2-founder-mutation-with-an-attenuated-constitutional-mismatch-repair-deficiency-phenotype\/","title":{"rendered":"A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype (Contributed by Nancy Hamel)"},"content":{"rendered":"<p>The recent discovery of a new mutation in the DNA mismatch repair gene <em>PMS2<\/em> that is recurrent in the Inuit population surrounding Hudson Bay, Canada offers new insights suggesting that even a small, residual function of the gene in patients is sufficient to delay the age of onset of tumours. This new finding adds to existing knowledge that the disease is more severe in individuals carrying two mutated copies of <em>PMS2<\/em> than in individuals with only one mutated copy, and could serve as a model from which to design new preventive therapies in families with defects in these genes. \uff08<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/02\/17\/jmedgenet-2014-102934\">http:\/\/jmg.bmj.com\/content\/early\/2015\/02\/17\/jmedgenet-2014-102934<\/a> \uff09<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The recent discovery of a new mutation in the DNA mismatch repair gene PMS2 that is recurrent in the Inuit population surrounding Hudson Bay, Canada offers new insights suggesting that even a small, residual function of the gene in patients is sufficient to delay the age of onset of tumours. This new finding adds to [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/02\/17\/a-homozygous-pms2-founder-mutation-with-an-attenuated-constitutional-mismatch-repair-deficiency-phenotype\/\">Read More&#8230;<\/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-736","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype (Contributed by Nancy Hamel) - 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\/2015\/02\/17\/a-homozygous-pms2-founder-mutation-with-an-attenuated-constitutional-mismatch-repair-deficiency-phenotype\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype (Contributed by Nancy Hamel) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The recent discovery of a new mutation in the DNA mismatch repair gene PMS2 that is recurrent in the Inuit population surrounding Hudson Bay, Canada offers new insights suggesting that even a small, residual function of the gene in patients is sufficient to delay the age of onset of tumours. 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