234b Tumor Suppressors Flashcards Preview

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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

tumor suppressor genes overview? one or two alleles required?

loss of fxn --> increased cancer risk

both alleles must be lost (AKA loss of heterozygosity)