Author: Nat Pernick, M.D. (see Authors page)

Revised: 3 November 2015, last major update July 2013

Copyright: (c) 2003-2015,, Inc.

PubMed Search: Ataxia telangiectasia mutated[title]
  • Ataxia telangiectasia mutated, gene at 11q21-q22 (Wikipedia)
  • ATM is protein kinase that activates response to DNA double-strand breaks (Nat Rev Mol Cell Biol 2013;14:197, Front Genet 2013;4:37)
  • Mutations cause suboptimal induction of p53 dependent signaling after exposure to DNA damaging agents, which causes an increase in mitotic recombination
  • Also has functions essential to neuronal survival and normal function but unrelated to DNA damage (Mech Ageing Dev 2013;134:434)

Ataxia telangiectasia:
  • Rare neurodegenerative disorder due to mutation of protein
  • Characterized by early-onset, progressive cerebellar ataxia, oculomotor apraxia, choreoathetosis, conjunctival telangiectasias, immunodeficiency
  • Also increased risk of malignancy because cells are particularly radiosensitive; increased risk is due to changes occuring in germline cells and as somatic changes in tumors themselves (Oncogene 2014;33:3351)

ATM controls cellular survival
in response to DNA damage
through multiple pathways

Selected summary of the
ATM signaling network

Clinical Features
Uses by Pathologists
  • No uses at this time
Micro Images

Images hosted on other servers:

Prostate: ATM expression
in hyperplastic glands of
transitional zone

Prostate: adenocarcinoma
with low ATM staining

Prostate: adenocarcinoma
with normal ATM expression

Prostate: adenocarcinoma
with high ATM staining.

Negative Staining
  • Loss of 11q21-q22 (ATM) found in nodal, splenic marginal zone and lymphoplasmacytic lymphoma (Mod Pathol 2012;25:651)