Tumor Suppressor Genes Flashcards
1
Q
BRCA1/2
A
DNA repair protein
Breast and ovarian tumors
2
Q
APC
A
Adenomatous polyposis coli gene
Suppresses WNT and decreases beta-catenin
Familial adenomatous polyposis/colon cancer
3
Q
p53
A
Li-Fraumeni
Serous/papillary carcinomas
4
Q
MSH2, MLH1
A
Hereditary non-polyposis colon cancer (Lynch syn)
DNA mismatch repair
5
Q
Defect in DNA repair
A
Xeroderma Pigmentosum (NER) Ataxia telangiectasia (ATM) Bloom Syn (BLM) Fanconi anemia (FAC)
6
Q
CDKN2A
A
p16
Melanoma
7
Q
NF1/2
A
Neurofibromatosis
Negative regulator of RAS
8
Q
RB1
A
Negative regulator of G1 to S (inhibits E2F)
Retinoblastoma
Osteogenic sarcoma
9
Q
VHL
A
Inhibits HIF1 alpha - prevents angiogenesis
Von Hippel Lindau:
Hemangioblastoma
Clear cell renal carcinoma
10
Q
WT1
A
Wilm’s Tumor - nephroblastoma
11
Q
TSC1/2
A
Tuberous Sclerosis
12
Q
PTEN
A
Tyrosine phosphatase of PIP3
breast, prostate, endometrial cancer