Stains & molecular markers

Topic Completed: 1 July 2013

Minor changes: 11 December 2020

Copyright: 2003-2021,, Inc.

PubMed Search: Ataxia telangiectasia mutated[title]

Nat Pernick, M.D.
Page views in 2020: 294
Page views in 2021 to date: 15
Cite this page: Pernick N. ATM. website. Accessed January 17th, 2021.
Definition / general
  • 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)
Diagrams / tables

Images hosted on other servers:

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

Selected summary
of the ATM

Clinical features
Uses by pathologists
  • No uses at this time
Microscopic (histologic) images

Images hosted on other servers:

Prostate: ATM expression
in hyperplastic glands of
transitional zone

Prostate: adenocarcinoma
with low ATM staining

with normal
ATM expression

with high ATM

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