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CTNNB1
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Interpretation 112
Tier 3
CTNNB1
Variants
CTNNB1 codon(s) 32, 33, 34, 35, 36, 37, 41, 45 any
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

Somatic mutations in CTNNB1 (Beta-catenin) have been found in ~2-3% of malignant melanomas. Preclinical models have demonstrated that concurrent mutations in Beta-catenin and NRAS are synergistic in promoting melanoma formation.

Citations
  1. Delmas et al.. Beta-catenin induces immortalization of melanocytes by suppressing p16INK4a expression and cooperates with N-Ras in melanoma development. Genes Dev. 2007 Nov 15;21(22):2923-35
Last updated: 2020-07-24 14:51:09 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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