PTCH2 gene mutations have been found in an inherited condition called basal cell nevus syndrome and in some types of cancer, including basal cell skin cancer and medulloblastoma (a type of brain cancer).
PTCH1 and PTCH2 act as tumor suppressors by maintaining control over Hedgehog signaling. Their loss—whether by mutation or reduced expression—leads to unchecked pathway activation, supporting cell proliferation and survival. Such abnormalities are associated with a more aggressive tumor phenotype and poorer clinical outcomes in cancers where the Hedgehog pathway is a driver of tumorigenesis.
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