Tumor Suppressors Flashcards
1
Q
unilateral RB
A
sporadic; no family history and no secondary tumors
2
Q
bilateral RB
A
familial and dominant; risk of tumors elsewhere
3
Q
pRb function
A
inhibits E2F to prevent cell cycle from exiting G1 and entering S phase
4
Q
possible mutations affecting pRb
A
RB promoter is methylated, cyclin D is overexpressed and always phosphorylates it, CDK4 is mutated so p16 can’t inhibit, loss of CDKIs, pRb degraded
5
Q
Li-Fraumeni Syndrome
A
mutation in p53 prevents it from turning off cell cycle
6
Q
adenomatous polyposis coli
A
loss of APC causes constitutive activation of beta-catenin which leads to polyps in colon
7
Q
Von-Hippel Lindau syndrome
A
clear cell kidney cancer, pheochromocytoma, hemangioblastomas due to VHL inactivation
