The W844C mutation is associated with resistance to Vismodegib in basal cell carcinoma.

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

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.

Somatic mutations in TP53 are frequent in human cancer. Germline TP53 mutations cause of Li-Fraumeni syndrome, which is associated with a range of early-onset cancers. The types and positions of TP53 mutations are diverse. TP53 mutations may be potential prognostic and predictive markers in some tumor types, as well as targets for pharmacological intervention in some clinical settings. The IARC TP53 Database (http://www-p53.iarc.fr/) is a useful resource which catalogues TP53 mutations found in cancer.

This gene is a known cancer gene. ARID1A/BAF250A subunit of the SWI/SNF (BAF) chromatin remodeling complex has emerged as recurrently mutated in a broad array of tumor types and a potential tumor suppressor. There is evidence indicating that ARID1A-mutated cancers may be subjected to therapeutic intervention.