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Oncology Board Preparation > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Tuberous Sclerosis

A
  1. Clear-cell kidney cancer
  2. angiolipoma
  3. pulmonary lymphangiomatosis,
  4. subcutaneous ependymal giant
    cell astrocytoma,
  5. retinal hamartoma
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2
Q

What gene/protein change is seen with Birt-Hogg-Dube syndrome?

A

FLCN gene

Protein folliculin

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3
Q

Which chromosome deletion is seen with Birt-Hogg-Dube syndrome?

A

17p

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4
Q

Which chromosome in von Hippel-Lindau is involved for renal cell carcinoma?

A

3p

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5
Q

Which protein is mutated in papillary kidney cancer?

A

MET

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6
Q

Which 2 pathways are upregulated with von Hippel-Lindau Lindau mutated renal cell carcinoma?

A

MTOR

VEGFR

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7
Q

Which syndrome causes chromophobe renal cell carcinoma?

A

Birt-Hogg-Dube Syndrome

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8
Q

What else does Birt-Hogg-Dube syndrome predispose patients to besides RCC?

A

Pulmonary blebs

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Oncology Board Preparation (6 decks)

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