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SMAD4
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Interpretation 276
Tier 3
SMAD4
Variants
Primary Sites
Breast
Tumor Types
Adenocarcinoma
Interpretation

SMAD4 is tumor suppressor gene and it encodes an intracellular mediator in the transforming growth factor β (TGF β) signal transduction pathway. Somatic mutations affecting the SMAD4 gene are rare in breast neoplasms and their role in breast tumorigenesis remains unclear. However, it has been demonstrated that SMAD4 protein expression is markedly downregulated or lost in breast ductal carcinoma when compared with that in the normal breast epithelium. Loss of SMAD4 protein expression may play a role in disease progression and overall prognosis in breast cancer patients but this need to be fully elucidated.

Citations
  1. Liu N, et al. SMAD4 expression in breast ductal carcinoma correlates with prognosis. Oncol Lett 2015;10(3):1709-1715
  2. Cancer Genome Atlas Network Comprehensive molecular portraits of human breast tumours. Nature 2012;490(7418):61-70
  3. Deckers M, et al. The tumor suppressor Smad4 is required for transforming growth factor beta-induced epithelial to mesenchymal transition and bone metastasis of breast cancer cells. Cancer Res 2006;66(4):2202-9
  4. Lee JY, et al. Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer. Oncotarget 2015;6(41):43731-42
  5. Stephens PJ, et al. The landscape of cancer genes and mutational processes in breast cancer. Nature 2012;486(7403):400-4
  6. Zhong D, et al. Homozygous deletion of SMAD4 in breast cancer cell lines and invasive ductal carcinomas. Cancer Biol Ther 2006;5(6):601-7
  7. Ciriello G, et al. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer. Cell 2015;163(2):506-19
Last updated: 2016-06-01 13:53:34 UTC
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