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Flashcards in Tumor suppressor genes Deck (15):
1

APC gene product + associated neoplasm

Negative regulator of B-catenin/WNT pathway
CRC, associated with FAP

2

BRCA1/BRCA2 gene product + associated neoplasm

DNA repair protein (repairs double strand breaks)
Breast, ovarian and pancreatic cancer

3

NF1 gene product + associated neoplasm

Neurofibromin (Ras GTPase activating protein)
Neurofibromatosis 1

4

NF2 gene product + associated neoplasm

Merlin (schwannomin) protein
Neurofibromatosis 2

5

Rb gene product + associated neoplasm

Inhibits E2F, blocks G1 → S transition
Retinoblastoma, osteosarcoma

6

TP53 gene product + associated neoplasm

p53, activates p21; blocks G1 → S transition
Li Fraumeni (SBLA → sarcoma, breast, leukemia, adrenal cancers), etc

7

CDKN2A gene product + associated neoplasm

p16, blocks G1 → S transition
Melanoma, pancreatic cancer

8

TSC1 gene product + associated neoplasm

Harmatin protein
Tuberous sclerosis

9

TSC2 gene product + associated neoplasm

Tuberin protein
Tuberous sclerosis

10

VHL gene product + associated neoplasm

Inhibits hypoxia inducible factor 1a, von Hippel Landau dz

11

WT1 gene product + associated neoplasm

Transcription factor that regulates urogenital development
Wilms tumor (nephroblastoma)

12

PTEN gene product + associated neoplasm

Tyrosine phosphatase of PIP3
Breast, prostate, and endometrial cancer

13

MEN1 gene product + associated neoplasm

Menin
MEN 1

14

DCC

DCC, deleted in colon cancer
Colon cancer

15

DPC4/SMAD4

DPC, deleted in pancreatic cancer
Pancreatic cancer