Genetics and Cancer Flashcards
What type of mutation is most likely to activate an oncogene?
A missense mutation (the oncogene needs to work).
If you had a parent who had bowel cancer in their 70s, how would you describe your relative risk of bowel cancer?
Slightly higher than population risk.
What proteins repair DNA strand breaks?
BRCA1, BRCA2 and RAD51.
What are the characteristics of a cancer determined and not determined by?
By its driver mutations, not by its tissue of origin.
What is a common mutation in melanomas?
BRAF mutation activating KRAS pathway?
What would be effective in treating such a melanoma?
Specific BRAF inhibitor.
What oncogene is activated in the philadelphia chromosome?
ABL.
What is a specific inhibitor of ABL?
Imatinib (glivec).
What genetic test is done on every bowel cancer excised in Scotland?
MLH1 test.
What is the common disease common variant hypothesis?
Rare diseases will have rare mutations and common diseases will have common ones.
