Tumor suppressors (loss of function) Flashcards
1
Q
APC
A
Negative regulator of beta-cateinin/WNT pathway
CRC esp. FAP
2
Q
BRCA1/2
A
DNA repair
Breast, ovarian, pancreatic cancer
3
Q
CDKN2A
A
p16 (blocks G1 to S phase)
Melanoma, pancreatic ca.
4
Q
DCC
A
Deleted in colon cancer
CRC
5
Q
DPC4/SMAD4
A
Deleted in pancreatic cancer
Pancreatic ca.
6
Q
MEN1
A
Menin
MEN1
7
Q
NF1
A
Neurofibromin (Ras GTPase activating protein)
NF type 1
8
Q
NF2
A
Merlin (schwannomin) protein
NF type 2
9
Q
PTEN
A
Tyrosine phosphatase of PIP3 (eg protein kinase B (AKT) activation)
Breast cancer, prostate cancer, endometrial cancer
10
Q
Rb
A
Inhibits E2F, blocks G1 to S phase
Retinoblastoma, osteosarcoma
11
Q
TP53
A
p53 activates p21, bocks G1 to S phase Most cancers (Li-Fraumeni syndrome = early onset sarcoma, breast, leukemia and adrenal ca.)
12
Q
TSC1
A
Hamartin protein
Tuberous sclerosis
13
Q
TSC2
A
Tuberin protein
Tuberous sclerosis
14
Q
VHL
A
Inhibits HIF1alpha
von Hippel-Lindau disease
15
Q
WT1
A
Transcription factor for urogenital development
