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ATP2A3 gene is involved in cancer susceptibility

Branka Korosec1, Damjan Glavac, Metka Volavsek

  • 1Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, Slovenia.

Cancer Genetics and Cytogenetics
|December 23, 2008
PubMed

Insights

Alterations in the ATP2A3 gene are significantly increased in colon, lung, and CNS cancers. Haplo-insufficiency of ATP2A3 may predispose individuals to cancer development.

Area of Science:

  • Molecular Biology
  • Oncology
  • Genetics

Background:

  • Sarco/endoplasmic reticulum calcium-ATPase (SERCA) regulates cellular calcium homeostasis, crucial for preventing cancer.
  • Previous studies indicated ATP2A2 gene alterations in various cancers and ATP2A3 in head and neck cancers.

Purpose of the Study:

  • To investigate the role of the ATP2A3 gene in colon, lung, and CNS cancers.
  • To determine if ATP2A3 alterations contribute to cancer susceptibility.

Main Methods:

  • Statistical analysis of ATP2A3 gene alterations in patient cohorts.
  • Epigenetic analysis including methylation status.
  • Gene expression analysis focusing on specific mutations.

Main Results:

  • A statistically significant increase in ATP2A3 alterations was observed in colon, lung, and CNS cancers.
  • Methylation status of ATP2A3 remained unchanged across cancer types.
  • ATP2A3 expression was normal for exon 14 mutations but reduced with intron VI nucleotide changes.

Conclusions:

  • The ATP2A3 gene is significantly altered in multiple cancer types, suggesting a role in cancer susceptibility.
  • ATP2A3 may not function as a classical tumor suppressor; haplo-insufficiency could predispose to cancer.

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