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ATM gene

ATM serine/threonine kinase
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Normal Function

The ATM gene provides instructions for making a protein that is located primarily in the nucleus of cells, where it helps control the rate at which cells grow and divide. This protein also plays an important role in the normal development and activity of several body systems, including the nervous system and the immune system. Additionally, the ATM protein assists cells in recognizing damaged or broken DNA strands. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material during cell division. The ATM protein coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell's genetic information.

Because of its central role in cell division and DNA repair, the ATM protein is of great interest in cancer research.

Health Conditions Related to Genetic Changes

Ataxia-telangiectasia

Researchers have identified several hundred mutations in the ATM gene that cause ataxia-telangiectasia. People with this disorder have mutations in both copies of the ATM gene in each cell. Most of these mutations disrupt protein production, resulting in an abnormally small, nonfunctional version of the ATM protein. Cells without any functional ATM protein are hypersensitive to radiation and do not respond normally to DNA damage. Instead of activating DNA repair, the defective ATM protein allows mutations to accumulate in other genes, which may cause cells to grow and divide in an uncontrolled way. This kind of unregulated cell growth can lead to the formation of cancerous tumors. In addition, ATM mutations can allow cells to die inappropriately, particularly affecting cells in a part of the brain involved in coordinating movements (the cerebellum). This loss of brain cells causes the movement problems characteristic of ataxia-telangiectasia.

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Bladder cancer

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Breast cancer

MedlinePlus Genetics provides information about Breast cancer

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Melanoma

MedlinePlus Genetics provides information about Melanoma

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Other cancers

Research suggests that people who carry one mutated copy of the ATM gene in each cell may have an increased risk of developing several other types of cancer. In particular, some studies have shown that cancers of the breast, stomach, bladder, pancreas, lung, and ovaries occur more frequently in ATM mutation carriers than in people who do not carry these mutations. The results of similar studies, however, have been conflicting. Additional research is needed to clarify which other types of cancer, if any, are associated with ATM mutations.

Other Names for This Gene

  • AT mutated
  • AT protein
  • AT1
  • ATA
  • ataxia telangiectasia mutated
  • ataxia telangiectasia mutated (includes complementation groups A, C and D)
  • ataxia telangiectasia mutated protein
  • ATC
  • ATD
  • ATDC
  • ATE
  • ATM_HUMAN
  • human phosphatidylinositol 3-kinase homolog
  • serine-protein kinase ATM
  • TEL1
  • TELO1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Ahmed M, Rahman N. ATM and breast cancer susceptibility. Oncogene. 2006 Sep 25;25(43):5906-11. Review. Citation on PubMed
  • Bradbury JM, Jackson SP. ATM and ATR. Curr Biol. 2003 Jun 17;13(12):R468. Citation on PubMed
  • Geoffroy-Perez B, Janin N, Ossian K, LaugĂ© A, Croquette MF, Griscelli C, DebrĂ© M, Bressac-de-Paillerets B, Aurias A, Stoppa-Lyonnet D, Andrieu N. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer. 2001 Jul 15;93(2):288-93. Citation on PubMed
  • Gumy-Pause F, Wacker P, Sappino AP. ATM gene and lymphoid malignancies. Leukemia. 2004 Feb;18(2):238-42. Review. Citation on PubMed
  • Hall J. The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants. Cancer Lett. 2005 Sep 28;227(2):105-14. Epub 2005 Jan 8. Review. Citation on PubMed
  • Kim JH, Kim H, Lee KY, Choe KH, Ryu JS, Yoon HI, Sung SW, Yoo KY, Hong YC. Genetic polymorphisms of ataxia telangiectasia mutated affect lung cancer risk. Hum Mol Genet. 2006 Apr 1;15(7):1181-6. Epub 2006 Feb 23. Citation on PubMed
  • Kitagawa R, Kastan MB. The ATM-dependent DNA damage signaling pathway. Cold Spring Harb Symp Quant Biol. 2005;70:99-109. Review. Citation on PubMed
  • Kurz EU, Lees-Miller SP. DNA damage-induced activation of ATM and ATM-dependent signaling pathways. DNA Repair (Amst). 2004 Aug-Sep;3(8-9):889-900. Review. Citation on PubMed
  • Lavin MF, Birrell G, Chen P, Kozlov S, Scott S, Gueven N. ATM signaling and genomic stability in response to DNA damage. Mutat Res. 2005 Jan 6;569(1-2):123-32. Review. Citation on PubMed
  • Lavin MF, Kozlov S. DNA damage-induced signalling in ataxia-telangiectasia and related syndromes. Radiother Oncol. 2007 Jun;83(3):231-7. Epub 2007 May 23. Review. Citation on PubMed
  • McKinnon PJ. ATM and ataxia telangiectasia. EMBO Rep. 2004 Aug;5(8):772-6. Review. Citation on PubMed or Free article on PubMed Central
  • Motoyama N, Naka K. DNA damage tumor suppressor genes and genomic instability. Curr Opin Genet Dev. 2004 Feb;14(1):11-6. Review. Citation on PubMed
  • Prokopcova J, Kleibl Z, Banwell CM, Pohlreich P. The role of ATM in breast cancer development. Breast Cancer Res Treat. 2007 Aug;104(2):121-8. Epub 2006 Oct 24. Review. Citation on PubMed
  • Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, Ahmed M, North B, Jayatilake H, Barfoot R, Spanova K, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK), Easton DF, Stratton MR, Rahman N. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006 Aug;38(8):873-5. Epub 2006 Jul 9. Citation on PubMed
  • Shiloh Y. ATM and related protein kinases: safeguarding genome integrity. Nat Rev Cancer. 2003 Mar;3(3):155-68. Review. Citation on PubMed
  • Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005 Jun 1;97(11):813-22. Citation on PubMed
  • Yang J, Yu Y, Hamrick HE, Duerksen-Hughes PJ. ATM, ATR and DNA-PK: initiators of the cellular genotoxic stress responses. Carcinogenesis. 2003 Oct;24(10):1571-80. Epub 2003 Aug 14. Review. Citation on PubMed
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