{"id":1379,"date":"2019-11-13T15:16:28","date_gmt":"2019-11-13T15:16:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1379"},"modified":"2026-02-24T00:22:44","modified_gmt":"2026-02-24T00:22:44","slug":"nek11-as-a-candidate-high-penetrance-melanoma-susceptibility-gene","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/nek11-as-a-candidate-high-penetrance-melanoma-susceptibility-gene\/","title":{"rendered":"NEK11 as a candidate high-penetrance melanoma susceptibility gene (Contributed by Eirini Christodoulou)"},"content":{"rendered":"

Cutaneous melanoma is an aggressive type of cancer developing from pigment-producing cells of the skin. Clustering of melanoma in at least two first degree relatives indicates a genetic contribution to the disease. Our general aim was to provide insight into the genetic basis of familial melanoma. We report on the identification of a novel co-segregating variant, in the checkpoint regulatory gene, NEK11<\/em>, by application of Whole Exome Sequencing analysis. We further showed somatic loss of the wildtype allele in the melanoma of a NEK11<\/em> mutation carrier and demonstrated loss-of-function through protein instability. Collectively our findings support NEK11<\/em> as a candidate melanoma susceptibility gene. \u00a0(https:\/\/jmg.bmj.com\/content\/early\/2019\/11\/08\/jmedgenet-2019-106134<\/a> )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Cutaneous melanoma is an aggressive type of cancer developing from pigment-producing cells of the skin. Clustering of melanoma in at least two first degree relatives indicates a genetic contribution to the disease. Our general aim was to provide insight into the genetic basis of familial melanoma. We report on the identification of a novel co-segregating […]<\/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-1379","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nNEK11 as a candidate high-penetrance melanoma susceptibility gene (Contributed by Eirini Christodoulou) - 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\/2019\/11\/13\/nek11-as-a-candidate-high-penetrance-melanoma-susceptibility-gene\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"NEK11 as a candidate high-penetrance melanoma susceptibility gene (Contributed by Eirini Christodoulou) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cutaneous melanoma is an aggressive type of cancer developing from pigment-producing cells of the skin. 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