Testing Flashcards
What type of mutation is the majority of inheritable cancer disorders
Autosomal dominant
They are very rare though
What kind of mutation normally causes cancer
Somatic
What inheritable cancer disorders are because of DNA strand breaks
BRCA1, BRCA2 and RAD51
What inheritable cancer disorder is because of UV or chemical crosslinking
Xeroderma pigmentosa
What inheritable cancer disorder is because of a mismatched base
Hereditary colorectal cancer
What do oncogenes do
Increase cell divison
What do tumour suppressors do
Stop cell division
Other than oncogenes and tumour suppressors what genes are involved in cancer
DNA repair genes and genes involved in the metabolism of carcinogens
What is the difference between driver mutations and passenger mutations
Driver mutations cause carcinogenesis, passenger mutations are incidental and occur because the tumour is unstable
What is the two hit hypothesis
Tumour supressors have to be taken out on both copies of the gene. Eg retinoblastoma
How can you create oncogenes that cause cancer
Duplicate the gene, activate the promoter, change amino acid sequence so it is more active
What is the BRAF mutation
Melanoma. BRAF gets V600E mutation then it is activated, activating MEK-ERK pathway activating cell division
What is the philadelphia chromosome
9-22 translocation leads to uncontrolled activation of the ABL oncogene (imatinib or Glived) is a specific inhibitor of ABL and can be used to treat it
What is the MLH1 protein
A mismatch repair protein. These follow the two-hit hypotheses. You can inherit these. Immunotherapy is good for treating these.
What is a polymorphism
A variation in the human genome that does not cause a disease in their own right but can predispose to a common disease.
SNPs are single nucleotide polymorphisms.
