DNA Damage and Repair

Question 1

Define microsatellite instability (MIN)

Answer 1

Small, subtle base changes leading to point mutations

Caused by errors in DNA repair

Question 2

Define chromosome instability (CIN)

Answer 2

Continuous large scale loss or gain of whole chromosomes or parts of chromosomes
Associated with errors in chromosome segregation

Question 3

Define chromosome translocations

Answer 3

Breakage/fusion of chromosomes creating novel, uncontrolled genes
May be caused by eroded telomeres
Often due to recombination errors in immun cells, hence common in leukaemias/lymphomas

Question 4

Define copy number variation (CNV)

Answer 4

Loss or gain of multiple copies of genes

Gene amplification is particularly associated with late stage tumours and development of drug resistance

Question 5

Do mutations in DNA polymerase delta increase or decrease cancer incidence?

Answer 5

Increase cancer incidence