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We performed a systematic review with meta-analysis of 11 retrospective case-control studies to evaluate cancer risks associated with germline\n                    <jats:italic>MITF<\/jats:italic>\n                    variants. Across 8,606 melanoma patients and 17,953 controls, the E318K variant was detected in 2.1% and 0.8% of individuals, respectively, corresponding to a significantly increased melanoma risk (OR 2.55, 95% CI 1.90\u20133.43). The association was stronger in patients with multiple primary melanomas, with carrier frequencies up to 2.6% compared to 1.0% in single melanoma cases and ORs reaching 4.45 in individual studies. Phenotypic analyses showed enrichment of high nevus burden (&gt;\u2009200 nevi), with ORs up to 12.4 in multiple melanoma cohorts. No consistent association with age at onset or pigmentary traits was observed. Evidence for non-melanoma cancers was limited and heterogeneous: a single study reported increased renal cancer risk (OR 7.64), whereas larger cohorts failed to replicate this finding; an association with pheochromocytoma\/paraganglioma was observed (OR 3.19) but lacks confirmation. No other\n                    <jats:italic>MITF<\/jats:italic>\n                    variants demonstrated significant cancer risk. These findings support MITF\n                    <jats:italic>E318K<\/jats:italic>\n                    as a moderate-penetrance melanoma susceptibility allele, particularly associated with multiple primary melanomas.\n                  <\/jats:p>","DOI":"10.1007\/s10689-026-00603-x","type":"journal-article","created":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T04:56:49Z","timestamp":1789793809000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A systematic review of cancer risks associated with MITF variants"],"prefix":"10.1007","volume":"25","author":[{"given":"Luigi","family":"Monti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Godino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clio","family":"Dessinioti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Stratigos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Papadodima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Pintzas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delia","family":"Nicoar\u0103","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvette","family":"Albert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Boccia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Barbato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Erini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Miccoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Innella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Turchetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,19]]},"reference":[{"issue":"5","key":"603_CR1","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1111\/pcmr.13053","volume":"35","author":"JS Chauhan","year":"2022","unstructured":"Chauhan JS, H\u00f6lzel M, Lambert JP, Buffa FM, Goding CR (2022) The MITF regulatory network in melanoma. 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Therefore, ethical approval and informed consent were not required.","order":2,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors confirm that no generative artificial intelligence tools were used in the writing, analysis, or preparation of this manuscript.","order":3,"name":"Ethics","label":"Declarations of generative AI use","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"91"}}