Flashcards in 234b Tumor Suppressors Deck (19):
1
APC
associated tumor?
gene product?
colorectal cancer (associated with FAP)
2
BRCA 1
associated tumor?
gene product?
breast and ovarian cancer
DNA repair protein
3
BRCA2
associated tumor?
gene product?
breast and ovarian cancer
DNA repair protein
4
CPD4/SMAD4
associated tumor?
gene product?
pancreatic caner
DPC - Deleted in Pancreatic Cancer
5
DCC
associated tumor?
gene product?
colon cancer
DCC - Deleted in Colon Cancer
6
MEN1
associated tumor?
gene product?
MEN I
7
NF1
associated tumor?
gene product?
NeuroFibromatosis I
RAS GTPase activating protein (neurofibromin)
8
NF2
associated tumor?
gene product?
NeuroFibromatosis 2
Merlin (schwannomin) protein
9
p16
associated tumor?
gene product?
melanoma
--I Cyclin D --> inhibits CDK2 P of Rb
allows cyclin-dep kinase 2A --> P Rb --> allows progression
10
p53
associated tumor?
fxn?
gene product?
most human cancers
Li-Fraumeni syndrome (inherited p53 mutation)
guardian of the genome - transcription factor, up regulated in tumors but is mutated in the DNA binding domain (thus doesn't regulate self by making MDM2 to destroy p53)
transcription factor for p21, blocks G1->S
11
PTEN
associated tumor?
gene product?
breast, prostate, endometrial
Cowden's syndrome
12
Rb
associated tumor?
normal function?
gene product?
RetinoBlastoma, osteosarcoma
central regulator of G1-S transition
inhibits E2F, blocks G1->S
13
TSC1
associated tumor?
gene product?
tuberous sclerosis
hamartin protein
14
TSC2
associated tumor?
gene product?
tuberous sclerosis
tuberin protein
15
VHL
associated tumor?
gene product?
von hippel-lindau disease
inhibits hypoxia inducible factor 1a
16
WT1
wilms tumor (nephroblastoma)
17
WT2
wilms tumor (nephroblastoma)
18
tumor suppressor genes overview? one or two alleles required?
loss of fxn --> increased cancer risk
both alleles must be lost (AKA loss of heterozygosity) - can be randomly deleted in uniparental disomy, can be epigenetic via methylation of normal allele
19