The first human tumour suppressor gene, the Retinoblastoma Susceptibil
ity gene (RB1) was first demonstrated in retinoblastoma, a rare paedia
tric eye tumour which has been studied extensively over the last centu
ry. Genetic studies of retinoblastoma have yielded unique insights int
o familial cancer syndromes and the mechanisms of oncogenesis by tumou
r suppressor genes such as the RB1 gene. In this view, we will summari
ze past research into the genetics of retinoblastoma that led to the d
iscovery of the RB1 gene and discuss the influence these results have
had on the field of cancer research. In addition, we will discuss curr
ent research into RB1 as it relates to cancer and its potential for ne
w therapies.