L6 - Clinical relevance of genetic repair mechanism

Question 1

Defect in BCRA1/2 komt voor in:

Answer 1

breast and ovarian cancer

Question 2

Defect in BCRA1/2 will be repaired with:

Answer 2

Homologous recombination

Question 3

Triple negative breact cancer test negative for:

Answer 3

estrogen receptors, progesteron receptors and excess HER2 (much lower survival)

Question 4

Synthetic lethality =

Answer 4

wanneer combinaties van tekortkomingen leidt tot celdood, maar 1 tekortkoming doet dat niet

Question 5

Therapy for ovarian cancer with an homologous defect caused by BRCA1/2 or RAD51

Answer 5

Olaparib

Question 6

Defect in MMR-genes komt voor in:

Answer 6

Colorectal, endometrial cancer

Question 7

Which MMR mutations cause lynch?

Answer 7

MLH1, MSH5, MSH6, PMS2 –> colon and endometrial cancer

Question 8

Microsatallite insable tumors

Answer 8

Tumors caused by repetitive sequences of nucleotides (AAAA). Normally the MMR system repairs this, but when the MMR system is mutated –> tumor

Question 9

How is MLH1 lost in lynch?

Answer 9

through promotor hypermethylation

Question 10

MUTYH syndrome causes: (+why)

Answer 10

colorectal cancer, because base excision repair is not working good

Question 11

POLE/POLD1 syndrome causes: (+why)

Answer 11

colorectal cancer, because polymerase is not repairing the mistakes

Question 12

Why is it better when you have a tumor whit a lot of mutations?

Answer 12

it is then more likely that the tumor can be recognized by the immune system as foreign

Question 13

Defect in TP53 komt voor in:

Answer 13

Li fraumeni –> cancer in nearly every tissue in the body