repair mechanisms

Question 1

on which chromosome does BRCA1 lay and on which BRCA2

Answer 1

BRCA1: chromosome 17
BRCA2: chromosome 13

Question 2

with what cancers are BRCA1 and 2 associated

Answer 2

breast cancer and ovarian cancer

Question 3

BRCA cancers are often triple negative. what does this mean

Answer 3

triple negative means they miss receptors for estrogen, progesterone and HER2. thus these can not be used for therapy

Question 4

what can be used to see if a recombination defect is caused by BRCA

Answer 4

RAD51 is more there if BRCA works. you can check if there is RAD51 by HRDetect

Question 5

what is redundancy

Answer 5

that if one mechanisms fails there is a backup system to deal with the problem

Question 6

what is the back up system for PARP-1 deficiency (base rescission repair)

Answer 6

homologous recombination

Question 7

what are the lynch syndrome genes

Answer 7

MLH1, MSH2, MSH6, PMS2

Question 8

what can you often see in the DNA of someone with lynch syndrome

Answer 8

microsatellite instability

Question 9

what sort of syndrome are MUTYH mutations

Answer 9

autosomal recessive syndromes

Question 10

polymerase mutant tumors (e.g. POLE/POLD1)

Answer 10

tumors with more mutations that are more likely to do better in therapy

Question 11

5-FU chemotherapy

Answer 11

a therapy that does not go well together with mmr deficiency. this because 5-FU cannot be put in the DNA in these people