DNA Repair Genes Flashcards
1
Q
What are features of genetic predisposition to cancer?
A
- Family history
- Early onset
- Multiple cancers
- Other abnormalities
2
Q
What kind of genes have an indirect involvement in cancer development?
A
- DNA repair genes
- Genes involved in carcinogen metabolism
3
Q
What causes ataxia telangiectasia?
A
- Mutations in ATM protein which is involved in sensing DNA damage
4
Q
How do mutations in ATM gene cause ataxia telangiectasia?
A
- Has protein kinase activity
- Phosphorylates p53 in DNA damage
- Cells cannot arrest cell cycle in response to DNA damage
5
Q
A mutation what kind of gene causes xeroderma pigmentosa?
A
Gene involved in DNA excision repair
6
Q
What kind of genes are implicated in Faconi anaemia?
A
Gene involved in regulation of DNA repair by HR
7
Q
Mutations in what kind of genes causes Hereditary non-polyposis colon cancer?
A
Genes involved in mismatch repair
8
Q
How do mutations in genes involved in mismatch repair cause Hereditary non-polyposis colon cancer?
A
- TGF-β receptor loss
- Can no longer inhibit epithelial cell growth
