Abstract
The molecular defects responsible for the cancer predisposition syndrome Fanconi's Anemia (FA) have been elusive. A recent study reports that the FANC-B and -D1 subgroups result from hypomorphic mutations in BRCA2. Given that BRCA2 protein participates in homologous recombination, this finding connects at least a subset of the FA phenotypes to defective DNA repair.
MeSH terms
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Animals
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BRCA2 Protein / genetics*
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DNA Damage*
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DNA Repair*
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Fanconi Anemia / genetics*
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Fanconi Anemia / pathology
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Fanconi Anemia Complementation Group D2 Protein
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Genetic Predisposition to Disease / genetics*
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Humans
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Mitomycin / pharmacology
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Nuclear Proteins / genetics
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Nuclear Proteins / metabolism
Substances
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BRCA2 Protein
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FANCD2 protein, human
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Fanconi Anemia Complementation Group D2 Protein
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Nuclear Proteins
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Mitomycin