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USMLE 1 > Hereditary DNA Repair Defect syndromes > Flashcards

Hereditary DNA Repair Defect syndromes Flashcards

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USMLE® Step 1 flashcards
1
Q

Ataxia Telangiectasia

A

DNA ionization radiation damage > T cell leukemia and lymphomas

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2
Q

Bloom sydrome

A

UV DNA induced damage > skin cancers

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3
Q

Le Fraumeni

A

P53 germline mutations > Muliple cancers in person or family

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4
Q

XPs

A

UV induced pyrimidine dimers > skin and ocular cancers

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5
Q

Fanconi

A

DNA crosslink repair with sensitivity to nitrogen mustards > non-lymphoid malignancies

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6
Q

HNPCC

A

DNA mismatch repair > colon and GI malignancies

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USMLE 1 (5 decks)

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