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12 Cards in this Set
- Front
- Back
Retinoblastoma
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Rb mutation. Autosomonal dominant.
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Li-Fraumeni syndrome
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p53 mutation. Autosomonal dominant.
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Familial adenomatous polyposis
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Defective APC gene. Autosomonal dominant.
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Familial atypical multiple mole melanoma syndrome
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p16 mutation. Autosomonal dominant.
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Neurofibromatosis
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Neurofibromin mutation. Autosomonal dominant.
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Familial breast/ovarian cancer
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BRCA1 or BRCA2 mutation. Autosomonal dominant.
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HNPCC
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DNA mismatch repair gene defects. Autosomonal dominant.
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Xeroderma Pigmentosum
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DNA excision repair defect. Autosomonal recessive.
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Ataxia-telangiectasia
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Defective DNA repair sensor. Autosomonal recessive. Also associated with IgA deficiency.
(DO NOT CONFUSE WITH FREIDRICH'S ATAXIA) |
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Bloom syndrome
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Recombination repair defect leading to chromosomal instability. Autosomal recessive.
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Fanconi anemia
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Recombination repair defect (like Bloom's). Autosomonal recessive.
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MEN IIA and MEN IIB
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Associated with ret proto-oncogene mutation
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