Variants in the human genome are known to predispose to disease. The E318K variant in the MITF transcription factor increases the likelyhood of melanoma whereas the link to renal cancer is inconsistent between studies. In the largest study to date, Walker and colleagues analysed the link between the E318K variant in MITF and renal cancer in 14,744 renal cancer cases and 1.7 million controls in several populations. Their meta-analysis did not detect an association between the E318K variant and renal cancer. Although some variation was observed between populations this is likely due to recruitment differences. This variant is therefore unlikely to affect renal cancer. (By Drs. Eiríkur Steingrímsson and Valentin Yves Walker, https://jmg.bmj.com/content/early/2026/01/29/jmg-2025-111119 )

Valentin Yves Walker