1. Retinoblastoma : the tumor suppressor gene paradigm.

Cancer is a genetic disease resulting from inherited or somatic mutations in oncogenes and tumor suppressor genes that regulate cellular proliferation, survival and differentiation. The first tumor suppressor gene to be identified was the RB tumor suppressor gene that is inactivated in familial and sporadic cases of human retinoblastoma, a childhood tumor of the retina. Loss of RB function has now been identified in most human cancers, and is particularly prevalent in small cell lung carcinoma and osteosarcoma.

Most cancers affect individuals after the reproductive age making it likely that tumor suppressor genes evolved to respond to physiological stresses that affect normal development. In this way, understanding the role of cancer genes like RB in normal developmental processes, such as red cell differentiation, is important to our overall appreciation of how these genes function in cancer.

 

References

K.F. Macleod and T. Jacks: Insights into Cancer from Transgenic Mouse Models. J. Path 187:43-60 (1999).

K.Macleod: Rb and E2f-1 in mouse development and tumorigenesis. Curr. Op. Gen. & Dev. 9: 30-37 (1999).

K. Macleod: Tumor suppressor genes. Curr. Op. Gen. & Dev. 10:81-93 (2000).