Grant: Operating Grant

Melanoma is a type of cancer that originates in the pigment cells of the skin. The number of melanoma cases in North America has more than doubled in the past 20 years and continues to rise. When not treated at an early stage of disease progression, melanoma patients often have a poor survival outcome, since metastatic melanoma is very aggressive. It is generally believed that cancer is caused when individual cells develop a series of changes in their DNA or genetic material. These changes allow them to escape normal growth restrictions. Our main goal is to understand how melanoma forms in people. We began this project by using mice to model the genetics of skin pigmentation. We focused on three genes that we found darkened the mouse skin when mutated: GNAQ, GNA11 and NF1. We have since identified a mutation in GNAQ in 46% of uveal melanomas, a cancer of the pigment cells in the uveal tract of the eye. GNAQ is the first oncogene identified in this type of cancer and suggests novel therapeutic strategies for its treatment. In this application, we propose to further study the role of GNAQ, GNA11 and NF1 in skin pigmentation and disease.