{"id":462,"date":"2013-02-05T19:27:25","date_gmt":"2013-02-05T19:27:25","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=462"},"modified":"2013-02-27T13:48:32","modified_gmt":"2013-02-27T13:48:32","slug":"melanoma-prone-families-with-cdk4-germline-mutation-phenotypic-profile-and-associations-with-mc1r-variants","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/02\/05\/melanoma-prone-families-with-cdk4-germline-mutation-phenotypic-profile-and-associations-with-mc1r-variants\/","title":{"rendered":"Melanoma-prone families with CDK4 germline mutation: Phenotypic profile and associations with MC1R variants"},"content":{"rendered":"<p>Families with mutations in the genes <i>CDKN2A<\/i> or <i>CDK4<\/i> have a very high risk of developing cutaneous malignant melanoma. <i>CDKN2A<\/i> melanoma families are well characterized, whereas a common description has been lacking for the much rarer<i> CDK4<\/i> families. We have studied 17 <i>CDK4<\/i> families from eight countries, the largest collection of such pedigrees to date. In these families, there were altogether 103 subjects with a diagnosis of melanoma. They were characterized by early onset of disease, increased occurrence of clinically atypical nevi, development of multiple primary melanomas and an influence of <i>MC1R<\/i> gene variants on the phenotype. We conclude that <i>CDK4<\/i> families cannot be distinguished phenotypically from those with <i>CDKN2A<\/i> mutation. In a clinical setting, the <i>CDK4<\/i> gene should therefore always be examined in melanoma families with negative <i>CDKN2A<\/i> status. (By Dr. Hanne Eknes Puntervoll, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/02\/04\/jmedgenet-2012-101455\">http:\/\/jmg.bmj.com\/content\/early\/2013\/02\/04\/jmedgenet-2012-101455<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Families with mutations in the genes CDKN2A or CDK4 have a very high risk of developing cutaneous malignant melanoma. CDKN2A melanoma families are well characterized, whereas a common description has been lacking for the much rarer CDK4 families. We have studied 17 CDK4 families from eight countries, the largest collection of such pedigrees to date. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2013\/02\/05\/melanoma-prone-families-with-cdk4-germline-mutation-phenotypic-profile-and-associations-with-mc1r-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-462","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\/462","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=462"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/462\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=462"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=462"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=462"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}