The exon 2 variant in our cohort was identified in an index patient whose grandfather was diagnosed with hypopharyngeal carcinoma, which is in line with CDKN2A PVs predisposing to tobacco-related cancers such as orolaryngeal cancer, next to its predominant role in hereditary melanoma, pancreatic cancer, and further tumor entities [MIM:600160]. This evidence concerns the gene CDKN2A and hypopharyngeal carcinoma.