Skin Cancer

Question 1

What protein is lost in Xeroderma Pigmentosa?

Answer 1

Nuclear excision repair enzymes

Question 2

Is Xeroderma Pigmentosa dominant or recessive?

Answer 2

Recessive

Question 3

Which skin cancer does someone with Xeroderma Pigmentosa develop?

Answer 3

All three- squamous, basal and melanoma

Question 4

What is the underlying cause of Gorlin syndrome?

Answer 4

Loss of function mutation in Patched.

Question 5

Is Gorlin syndrome dominant or recessive?

Answer 5

Dominant

Question 6

What percentage of melanoma cases involve a B-Raf mutation?

Answer 6

26-70%

Question 7

What mutation in B-Raf accounts for 26-70% of melanoma cases?

Answer 7

Glutamic acid for valine substitution in position 600 in the kinase domain (V600E)

Question 8

What is the outcome of the V600E mutation in B-Raf?

Answer 8

Constitutive activity in the absence of Ras independent of B-Raf homodimerisation or Ras binding.

Question 9

What is the underlying cause of melanoma resistance to PLX4032?

Answer 9

Alternative splicing leading to deletion of the Ras binding domain, allowing Ras-independent homodimerisation.