In our study cohort, the prevalence of the p.E318K germline variant in CDKN2A/CDK4-negative patients was 2.2%, slightly higher than we previously reported in a smaller series of melanoma patients (1.8%) [13], but in line with Spanish (1.9%) [14], French (2.8%) [6], Australian (3.4–3.6%) [16] and American (2.8%) [12] studies. Here, CDKN2A is linked to melanoma.