- ATM gene 11q, Gene product normally activates p53 when DNA damage
- Autosomal Recessive, Heterozygotes 1.4% of population
- Cerebellar degeneration (ataxia), Skin & eyes telangiectasia, Immunodeficiency, Chromosomal instability
- Increase risk
- Lymphoma
- Leukaemia
- Gastric
- Pancreas
- Breast
- Ovarian
- Prognosis
- Life expectancy poor - age 25