FA tumor suppressor genes Flashcards Preview

First Aid > FA tumor suppressor genes > Flashcards

Flashcards in FA tumor suppressor genes Deck (18):
1

Tumor suppressor genes loss of function increases caner risk;

both alleles must be lost for expression of disease

2

APC gene

Colorectal cancer (associated with FAP)

3

BRCA1

Breast and ovarian cancer; DNA repair protein

4

BRCA2

Breast and ovarian cancer; DNA repair protein

5

CPD4/SMAD4

Pancreatic Cancer; DPC - Deleted in Pancreatic Cancer

6

DCC

Colon Cancer; DCC Deleted in Colon Cancer

7

MEN1

MEN type 1

8

NF1

Neurofibromatosis type 1; RAS GTPase activating protein (neurofibromin)

9

NF2

Neurofibromatosis type 2; Merlin (schwannomin) protein

10

p16

Melanoma; Cyclin-dependent kinase inhibitor 2A

11

p53

Most human cancers, Li-Fraumeni syndrome; Transciption factor for p21, blocks G1-S phase

12

PTEN

Breast, Prostate, Endometrial

13

RB

RetinoBlastoma, osteosarcoma; Inhibits E2F; blocks G1-S phase

14

TSC1

Tuberous sclerosis; Hamartin protein

15

TSC2

Tuberous sclerosis; Tuberin protein

16

VHL

Von Hippel Lindau disease; Inhibits hypoxia inducible factor 1a

17

WT1

Wilms Tumor (nephroblastoma)

18

WT2

Wilms Tumor (nephroblastoma)