What are the tumour suppressor genes?
- Genes whose function is lost during carcinogenesis.
- Both allele copies must be inactivated, before the tumour suppressor function is completely lost (absence of normal protein product),
- i.e. can be classified as recessive.
- Functional mutations result in loss of growth inhibitory mechanisms.
- Mutations can be hereditary (germline mutations) or acquired.
- An example of a tumour suppressor gene—the p53 gene:
- produces a transcriptional regulator involved in cell cycle control and maintaining genomic integrity
- ∼50% of human cancers possess p53 mutations, including breast, lung, pancreas, colon, and brain tumours, and malignancies seen in the inherited Li–Fraumeni syndrome.