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PTCH1
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Interpretation 341
Tier 1
PTCH1
Variants
Primary Sites
Skin
Tumor Types
Adenocarcinoma
Basal Cell Carcinoma
Squamous Cell Carcinoma
Small Cell Carcinoma
Interpretation

PTCH1 loss of function mutations are associated with Vismodegib sensitivity in basal cell carcinoma. However, the clinical significance in other tumor types is unknown.

Citations
  1. Sandhiya S, et al. The dawn of hedgehog inhibitors: Vismodegib. J Pharmacol Pharmacother 2013;4(1):4-7
  2. Yin VT, et al. Targeted therapy for orbital and periocular basal cell carcinoma and squamous cell carcinoma. Ophthal Plast Reconstr Surg 2013;29(2):87-92
  3. Von Hoff DD, et al. Inhibition of the hedgehog pathway in advanced basal-cell carcinoma. N Engl J Med 2009;361(12):1164-72
Last updated: 2017-01-20 03:36:18 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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