Two independent studies by teams of Howard Hughes Medical Institute (HHMI) scientists have revealed genetic mutations often present in the most common form of head and neck cancer—squamous cell carcinoma. Both groups found an unexpected role for NOTCH1, a gene implicated in other cancer types, and discovered a number of mutations never identified before. Although some of the mutations were seen only rarely, many pointed to misregulation of one common pathway, which normally controls cell differentiation. The findings offer a picture of how head and neck squamous cell carcinoma (HNSCC) develops, and how therapeutics could treat it.
“The vast majority of the genes we’ve discovered here are totally new,” says HHMI investigator Todd R. Golub, who led one of the studies. “If you’d polled the world’s experts on head and neck cancer about what genes they thought were important to study, they wouldn’t have listed these. That’s why this unbiased, data-driven way of looking at a cancer is so important.”......
