| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
| somatic mutation
| deletion
|
|
|
|
in B cell chronic lymphocytic leukemia |
| constitutional
| germinal mutation
|
|
|
|
|
in ataxia telangiectasia (see AT) but not mutated in childhood T-ALL |
| tumoral
|
| deletion
|
|
|
|
in mantle cell lymphoma (see also MTCL and TSG11F) and in lymphoblastic leukemia with favorable prognosis, in T-cell lymphomas with aberrant recombination between GZMB and GZMH |
| constitutional
|
| deletion
|
|
|
|
a 4nt deletion involved in the splicing processing defect in ATM |
| tumoral
|
|
|
| loss of function
|
|
in T cell prolymphocytic leukaemia (T-PLL), B-cell chronic lymphocytic leukaemia (B-CLL) and mantle cell lymphoma (MCL) |
| tumoral
|
|
| --low
|
|
|
in T-cell prolymphocytic leukemia |
| tumoral
|
|
| --over
|
|
|
in lung carcinoma, in esophageal squamous cell carcinoma and its premalignant lesions when compared with normal tissues and increased ATM expression was associated with tobacco smoke exposure and tumor de-differentiation |
| constitutional
|
|
|
| loss of function
|
acute effect of ATM inhibition on COX activity in skeletal muscle, it is likely that chronic ATM deficiency results in additional mitochondrial deficits in other tissue or cell types  |
