Tumor Suppressor Genes Flashcards Preview

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Flashcards in Tumor Suppressor Genes Deck (16):
1

Tumor suppressors

Loss of function = increased cancer risk
Both alleles must be lost for expression of disease

2

APC

Colorectal cancer (associated with FAP)

3

BRCA1/2

Breast and ovarian cancer

DNA repair protein

4

CPD4/SMAD4

Pancreatic cancer

DPC = Deleted in Pancreatic Cancer

5

DCC

Colon cancer

DCC = Deleted in Colon Cancer

6

MEN1

MEN type I

7

NF1

NeuroFibromatosis type 1

RAS GTPase activating protein (neurofibromin)

8

NF2

NeuroFibromatosis type 2

Merlin (schwannomin) protein

9

p16

Melanoma

Cyclin-dependent kinase inhibitor 2A

10

p53

Most human cancers
Li-Fraumeni syndrome

Transcription factor for p21, blocks G1-->S phase

11

PTEN

Breast, prostate, endometrial cancer

12

Rb

Retinoblastoma
Osteosarcoma

Inhibits E2F, blocks G1-->S phase

13

TSC1

Tuberous sclerosis

Hamartin protein

14

TSC2

Tuberous sclerosis

Tuberin protein

15

VHL

Von Hippel-Lindau disease

Inhibits hypoxia inducible factor 1a

16

WT1/2

Wilms Tumor - nephroblastoma