Wednesday, April 13, 2011

Specific Genetic Mutations in Retinoblastoma, Osteosarcoma, and Lung Cancer

Initial research revealed that there is a genetic link between hereditary retinoblastoma and osteosarcoma--that individuals who inherit retinoblastoma are predisposed to osteosarcoma (1); the gene responsible is Rb1 (2). My partner and I were very excited about this information; however, we soon discorved that mutations in Rb1 also cause other cancers, and that Rb1 was not specific to retinoblastoma and osteosarcoma only.


We continued to develop our topic, and as of now, we have decided to look at several genes and how their mutations could suggest correlations to certain cancers. The genes we will study in detail are Rb1, TP53, KIT, and GNAQ; we will look at how specific mutations in these genes lead to retinoblastoma, osteosarcoma, and lung cancer. By the end of our project, we hope to be able to make some conclusions as to whether or not certain cancers are genetically related according to similar genetic mutations.


Our major source will be the Catologue of Somatic Mutations in Cancer; this website includes a large database of all types of tumors that have been genetically sampled and studied. Here's a sample of the Rb1 gene that has been mapped by COSMIC for its mutations.