Pathology- Apoptosis And DNA Repair

Question 1

What is the primary function of BCL-2

Answer 1

Growth stimulator
Prevents apoptosis by binding with BAX BAK

Question 2

What mutation causes Follicular lymphoma ?

Answer 2

Gain of function of BCL-2
Translocation of chromosome (14:18)
Excess growth

Question 3

How does P53 induce apoptosis in relation to BCL-2 and BAX?

Answer 3

P53 binds with BCL-2
Unbinds BAX &BAK
Induces apoptosis

Question 4

What does PTEN DO?

Answer 4

Induces apoptosis
Increases BAX&BAK

Question 5

What is the second most mutated gene in cancer ?

Answer 5

PTEN ?

Question 6

What is the cause of Lynch syndrome ?

Answer 6

Defect in DNA mismatch repair
Most common colorectal cancer

Question 7

What is the incidence of Lynch syndrome in male and female ?

Answer 7

Male - 90% (colon cancer)
Female - 70% (colon) 46-60% (endometrial

Question 8

What is the mutation causing XERODERMA PIGMENTATOSA?

Answer 8

Defective Nucleotide Excision Repair
Cannot repair Pyramidine dimer

Question 9

What is the mutation in Ataxia Telangiectausa ?

Answer 9

ATM- mutation
Defect in DNA damage signalling

Question 10

What cancer is caused by mutation of P16INK4a?

Answer 10

Melanoma

Question 11

What causes immortalization in cancer cells ?

Answer 11

Increase in Telomerase
Increases in growth and proliferation