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headaches, ataxia, and has been vomiting - proteus
#1
A 40-year-old male has severe headaches, ataxia, and has been vomiting profusely. He has retinal hemangioblastomas and was recently diagnosed with renal cell carcinoma. This condition is caused by which of the following?

A. Mutations of a tumor suppressor gene on chromosome 3
B. Mutations of an oncogene on chromosome 3
C. Mutations of a tumor suppressor gene on chromosome 5
D. Mutations of an oncogene on chromosome 5
E. Mutations of a tumor suppressor gene on chromosome 12
F. Mutations of an oncogene on chromosome 12

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#2
I am confused b/n 1 and 2 options.
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#3
its a
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#4
VHL is TSG
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#5
Choice (A) is the correct answer. Von Hippel-Lindau disease is an autosomal dominant condition caused by mutations of the von Hippel-Lindau (VHL) tumor suppressor gene on chromosome 3. The disease is characterized by retinal and central nervous system hemangioblastomas. Patients are predisposed to developing pancreatic and kidney tumors. Kidney tumors are at high risk of developing into renal cell carcinoma. Pheochromocytomas are also associated with von Hippel-Lindau disease. The other choices are incorrect.
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