A systematic review of cancer risks associated with MITF variants.
Fam CancerSep 19, 2026 (epub)
Luigi Monti, Lea Godino, Clio Dessinioti et al.
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In 30 seconds
This systematic review and meta-analysis evaluated cancer risks associated with germline MITF variants, focusing on 11 retrospective case-control studies involving 8,606 melanoma patients and 17,953 controls. The MITF E318K variant was linked to a significantly increased melanoma risk (OR 2.55, 95% CI 1.90-3.43), particularly in patients with multiple primary melanomas.
Key findings
- The E318K variant was found in 2.1% of melanoma patients versus 0.8% of controls.
- In patients with multiple primary melanomas, carrier frequencies reached 2.6% compared to 1.0% in single melanoma cases.
- Phenotypic analyses indicated a high nevus burden, with ORs up to 12.4 in multiple melanoma cohorts.
- Limited evidence suggested an increased renal cancer risk (OR 7.64) and an association with pheochromocytoma/paraganglioma (OR 3.19).
Why it matters
Understanding the cancer risks associated with MITF variants, particularly E318K, can aid in identifying individuals at higher risk for melanoma and inform surveillance strategies. This knowledge is crucial for genetic counseling and risk assessment in oncology.