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Association details:
| Biomarker: | PTCH1 S616G |
|---|---|
| Cancer: | Basal Cell Carcinoma |
| Drug: | Erivedge (vismodegib) (Hedgehog cell-signalling pathway inhibitor) |
| Direction: | Sensitive |
Evidence:
Source:
Title:
Patient with multiple basal cell carcinomas treated with vismodegib with an excellent response, with a new potential pathogenic variant in PTHC gene
Published date:
04/20/2023
Excerpt:
A 44-year-old male patient...presenting multiple basal cell carcinomas….we found a variation in PTCH1 gen, Exon 13, c.1846A>G (p.Ser616Gly)...The patient received oral treatment with Vismodegib 150 mg/day, complementary to the surgical resolution of some of the lesions....After 12 months, a significant decrease in the size of locally advanced lesions and complete resolution of the smaller ones was observed.
