Genetics of Cancer II

Question 1

caretaker

Answer 1

genes that repair DNA damage and maintain genomic integrity.

Question 2

function of caretaker TSGs

Answer 2

protect the integrity of the gnome. Loss of function permits mutations to accumulate in onocgenes and gatekeeper genes, which initiate and promote cancer.

Question 3

caretaker TSGs encode

Answer 3

proteins responsible for detection and repairing DNA mutations
proteins involved in normal chromosome disjunction during mitosis.
components of programmed cell death machinery.

Question 4

examples of caretaker TSGs

Answer 4

BRCA1 and BRCA2

Question 5

greatest breast cancer risk factor

Answer 5

family history

Question 6

Tp53 gene

Answer 6

gatekeeper TS that is found in more than half of all human tumors.
Most of its mutations are missense mutations.

Question 7

role of TP53

Answer 7

activates DNA repair proteins when DNA has sustained damage.
Also holds the cell at the G1/S cell cycle checkpoint when recognizing DNA damage.

Question 8

Muation of TP53

Answer 8

DNA is not repaired

cell cycle is not arrested

Question 9

causes of mutations of TP53

Answer 9

carcinogenic substances

rare germline mutations

Question 10

driver gene mutations

Answer 10

promote cancer
are early mutations
can be oncogenes or TS genes in which driver mutations are inactivating.

Question 11

passenger mutations

Answer 11

99% of mutations found in cancer genes
do not confer growth advantage to the cancer cell.
are found in cancer cells because of randomness of mutation process.

Question 12

patients with the “same” cancer will have

Answer 12

different gene mutations, and a large number of genes with mutations.

Question 13

tumor subtypes of breast cancer

Answer 13

luminal A (HR+/HER2-)
luminal B (HR+/HER2+)
HER-2 enriched (HR-/HER2+)
Triple negative (HR-/HER2-)

Question 14

• Driver mutation vs. passenger mutation

o

Answer 14

• Driver mutation vs. passenger mutation

o Passenger more common, driver more important

Question 15

• Cancer treatments

Answer 15

• Cancer treatments
o Screening panels
o Subtypes of breast cancer – different treatments
o Whole exome sequencing
o Gene expression profiling
o Cancer immunotherapy: how you block the cancer cell from evading the immune response, page 24 slide 1
 T cells can recognize tumor
 Can also activate own immune system, can die  cure cancer but kill patient