With the rapid uptake of multigene panel testing in clinical setting, new data will continuously re-frame our understanding on the genotype-phenotype associations relevant to CDKN2A. This is exemplified by a recent analysis evaluating the clinical phenotype and molecular results of hereditary cancer predisposition testing in 165,000 individuals, which revealed an association of germline CDKN2A pathogenic variants with increased risk for breast cancer (odds ratio: 3.35, 95% CI: 1.43–7.75) [102]. The gene discussed is CDKN2A; the disease is breast carcinoma.