In fact, one of the scientists who originally reported a hotspot mutation (C1133Y) in the NOTCH1 Abruptex region of Chinese HNSCC patients [16] subsequently cloned the mutation and discovered that it prevented expression of NOTCH1 at the cell surface and a complete loss of canonical NOTCH1 signaling [50]. The gene discussed is NOTCH1; the disease is head and neck squamous cell carcinoma.