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12 Cards in this Set

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