The most famous tumour supressor gene is p53.
- found on chromosome 17
- the most commonly mutated gene in breast, colon and lung cancer
- a key regulator of apoptosis and prevents entry into the S phase of the cell cycle until the DNA is checked.
Li Fraumeni Syndrome is a rare condition in which there is an autosomal dominant p53 mutation. More rarely it may be caused by a CHEK-2 mutation. Li Fraumeni syndrome is characterised by early onset of cancer, especially breast, sarcoma or soft tissue.
Lets move on to mitochondrial disorders...