Which of the following pathway is seen in basal cell carcinoma:
PTCH gene: a tumor suppressor gene which translates into PATCHED protein which is responsible for inhibition of Hedgehog pathway which is responsible for cell proliferation. Any mutation in PTCH gene leads to disinhibition of Hedgehog pathway leading to uncontrol cell proliferation and cancer. Mutation in PTCH gene:Associated with basal cell carcinoma. Syndrome associated with BCC: GorlinSyndrome Medulloblastoma:also associated with Gorlin Syndrome Mutation in Hedgehog pathway associated with: Holoprosencephaly. Abnormalities of WNT signaling pathway: associated with craniopharyngioma. RAS gene: most common type of abnormality involving proto-oncogene in human tumor. Pancreatic Adenocarcinoma. Cholangiocarcinoma Colon, endometrium, Thyroid. MTOR: Tuberous sclerosis(TSC 1/TSC 2) (Hamain/ Tuberin) complex inhibit the activity of MTOR, a kinase that stimulates cell growth and regulates cell size. Absence of TSC 1/2 Expression often seen in Rhabdomyomas.
mTOR
Sonic Hedgehog
WNT
RAS
DNB 2018