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Interpretation 326
Tier 1
SMO
Variants
Primary Sites
Skin
Tumor Types
Basal Cell Carcinoma
Interpretation

Basal cell carcinoma (BCC) is primarily driven by the Sonic Hedgehog (Hh) pathway. Eighty-five percent of the BCCs harbors mutations in Hh pathway genes. In basal cell carcinoma, activating mutations in SMO are associated with sensitivity to Hedgehog pathway inhibitors.

Citations
  1. Bonilla X, et al. Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. Nat Genet 2016;48(4):398-406
  2. Danial C, et al. An Investigator-Initiated Open-Label Trial of Sonidegib in Advanced Basal Cell Carcinoma Patients Resistant to Vismodegib. Clin Cancer Res 2016;22(6):1325-9
Last updated: 2017-01-08 23:07:33 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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