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Alterations in the ATP2A2 gene in correlation with colon and lung cancer

Branka Korosec1, Damjan Glavac, Tomaz Rott

  • 1Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, Ljubljana, Slovenia.

Cancer Genetics and Cytogenetics
|November 23, 2006
PubMed

Insights

Alterations in the ATP2A2 gene, which regulates calcium in cells, were found in patients with colon and lung cancer. These genetic changes may increase cancer predisposition, suggesting ATP2A2

Area of Science:

  • Molecular Biology
  • Genetics
  • Oncology

Background:

  • Sarcoendoplasmic reticulum calcium ATPases (SERCA) are crucial for calcium regulation in cellular signaling pathways.
  • Previous studies in mice indicated a link between SERCA gene insufficiency and cancer development.
  • The ATP2A2 gene, encoding SERCA2, is investigated for its role in human carcinogenesis.

Purpose of the Study:

  • To investigate the involvement of the ATP2A2 gene in human cancer development.
  • To identify novel alterations in the ATP2A2 gene in cancer patients.
  • To assess the association between ATP2A2 alterations and specific cancer types.

Main Methods:

  • Genetic analysis of the ATP2A2 gene in patients with colon and lung cancer.
  • Identification and characterization of ATP2A2 gene alterations, including mutations, deletions, insertions, and single-nucleotide variants.
  • Assessment of ATP2A2 gene expression levels in relation to identified alterations.

Main Results:

  • Thirteen novel ATP2A2 gene alterations were identified in 27 out of 416 alleles.
  • ATP2A2 alterations were significantly more frequent in patients with colon cancer (OR = 25.3) and lung cancer (OR = 8.05).
  • Lost or reduced ATP2A2 expression was observed in patients with promoter region alterations or combined gene alterations.

Conclusions:

  • Germline alterations in the ATP2A2 gene may predispose individuals to lung and colon cancer.
  • Impaired ATP2A2 function could be an early event in the development of these cancers.
  • The ATP2A2 gene is a potential factor in carcinogenesis, warranting further investigation.

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