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SMAD4
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Interpretation 386
Tier 3
SMAD4
Variants
Primary Sites
Cervix
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Interpretation

SMAD4 is a tumor suppressor gene encoding an intracellular mediator in the transforming growth factor β (TGF β) signal transduction pathway. SMAD4 mutations have been observed in ~3% of cervical cancers. Functional inactivation of SMAD4 was found in 4 of 13 cervical squamous cancer cell lines, mostly due to homozygous loss. Loss of protein expression did not correlate with loss of heterozygosity and mutations in cervical squamous carcinomas; however, it was associated with poor disease-free and overall 5-year survival in one study. The predictive and prognostic significance of SMAD4 mutations in cervical cancers needs further elucidation. Results should be interpreted in conjunction with other laboratory and clinical findings.

Citations
  1. Chaikuad A, et al. Structural Basis of Intracellular TGF-b Signaling: Receptors and Smads. Cold Spring Harb Perspect Biol 2016;8(11):
  2. Baldus SE, et al. Smad4 deficiency in cervical carcinoma cells. Oncogene 2005;24(5):810-9
  3. Kloth JN, et al. Expression of Smad2 and Smad4 in cervical cancer: absent nuclear Smad4 expression correlates with poor survival. Mod Pathol 2008;21(7):866-75
Last updated: 2017-02-21 13:41:17 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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