Cancer syndromes

Question 1

Nevoid BCC syndrome (aka Gorlin syndrome)

Answer 1

AD cancer syndrome with congenital malformations, many dermal and mocusal lesions, and multiple BCCs.

Caused by mutation of PTCH1, which produces the Patched protein, a TSG.

PTCH1 inhibitor SMO. Without PTCH1 inhibition, SMO activates Gli1/2, which goes on to promote transcription that induces cell proliferation.