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Interpretation 185
Tier 3
SMAD4
Variants
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

Colorectal cancers (CRCs) frequently harbor somatic mutations in the pathway members  SMAD4. The prevalence of SMAD4, SMAD2, and SMAD3 mutations in sporadic CRCs was 8.6% (64 of 744), 3.4% (25 of 744), and 4.3% (32 of 744), respectively. Somatic SMAD4 mutations have been reported to be more common in advanced stages of CRCs and LOH at the SMAD4 locus has been associated with poor prognosis. SMAD4 mutations were associated with mucinous histology.

Citations
  1. Fleming et al….. SMAD2, SMAD3 and SMAD4 Mutations in Colorectal Cancer. Cancer Res January 15, 2013 73; 725
Last updated: 2015-12-09 21:27:16 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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