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ATM Deletion

Applications
haematology
Catalogue Numbers
LPH 011 (10 tests)
LPH 011-S (5 tests)

The protein kinase ATM (Ataxia-Telangiectasia Mutated) gene, located in 11q22.3, is frequently deleted in cases of B-CLL. ATM is an important checkpoint gene involved in the management of cell damage and its function is to assess the level of DNA damage in the cell and attempt repair by phosphorylating key substrates involved in the DNA damage response pathway.

The ATM/P53 (also known as TP53) interaction in B-CLL has been shown to play an important role in the proliferation of lymphoid cancer1. It has been shown that ATM enhances the phosphorylation of P532, should the damage be so great that the cell requires destruction by apoptosis (which is mediated by P53). Deletion of ATM removes this checkpoint activity and hence activation of P53. Thus, there is no attempt made to repair, or apoptosis of, damaged cells, despite the presence of P53. In the absence of ATM, damaged cells are allowed to continue to proliferate.

Screening for deletions of ATM and/or P53 is vital to allow informed therapy choices for CLL patients, especially as deletions of P53 and ATM confer poor prognosis3.

References

1. Stankovic et al., Blood 2004;103(1):291-300

2. Khanna et al., Nature Genetics 1998;20(4):398-400

3. Zent et al., Blood 2010;115(21):4154-4155

Microscope Images

ATM Deletion magnified
Area of Interest*
CLL

Disclaimer

This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed haematological samples.

*Disease information supported by the literature and is not a reflection of the intended purpose of this product.