{"id":7707,"date":"2026-01-29T17:00:30","date_gmt":"2026-01-29T17:00:30","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=f66b9acdb2b322a2ede29fc477922009"},"modified":"2026-03-20T14:40:24","modified_gmt":"2026-03-20T14:40:24","slug":"mitf-p-e318k-and-renal-cell-carcinoma-current-evidence-does-not-support-an-effect","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/29\/mitf-p-e318k-and-renal-cell-carcinoma-current-evidence-does-not-support-an-effect\/","title":{"rendered":"MITF (p.E318K) and renal cell carcinoma: current evidence does not support an effect"},"content":{"rendered":" <p>The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to alter MITF&rsquo;s genome occupancy, potentially influencing pathways involved in susceptibility to melanoma.<cross-ref type=\"bib\" refid=\"R1\">1<\/cross-ref><\/p> <p>The initial study from Bertolotto <I>et al<\/I><cross-ref type=\"bib\" refid=\"R1\">1<\/cross-ref> reported that this variant increases the risk of renal cell carcinoma (RCC) (OR 5.19, 95% CI 1.37 to 16.87, n=5\/164) and both RCC and melanoma (OR 14.46, 95% CI 3.74 to 48.04, n=5\/62) in a French clinic-based series of patients with both melanoma and RCC. Ghiorzo <I>et al<\/I><cross-ref type=\"bib\" refid=\"R2\">2<\/cross-ref> highlighted a potential association with histological subtypes and suggested that MITF may predispose to pancreatic cancer and melanoma as well as other cancers, including RCC. Hubert <I>et al<\/I><cross-ref type=\"bib\" refid=\"R3\">3<\/cross-ref> suggested that MITF is one of the genes in which pathogenic variants were identified in patients affected by both malignant melanoma...","protected":false},"excerpt":{"rendered":"<p> The microphthalmia-associated transcription factor (MITF) is a key regulator of melanocyte development, function and survival. The p.E318K variant affects SUMOylation at K316 and has been shown to alter MITF&rsquo;s genome occupancy, potentially influ&#8230;<\/p>\n","protected":false},"author":382,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14,9],"tags":[83],"class_list":["post-7707","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","category-open-access","tag-jmedgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/7707","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/382"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=7707"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/7707\/revisions"}],"predecessor-version":[{"id":13108,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/7707\/revisions\/13108"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=7707"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=7707"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=7707"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}