Radiation Oncology/Cancer Syndromes/Fanconi Anemia
< Radiation Oncology < Cancer Syndromes
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Fanconi Anemia
- FANC-D2 serves two roles, which are independent of each other
- Phosphorylation at S-222 by ATM in response to double strand break leads to activity in S-phase checkpoint
- Ubiquination at L-561 by FA nuclear complex leads to regulation of BRCA2 during homologous recombination
- Increased sensitivity to DNA cross-linking, but limited radiosensitivity
- Short stature, skeletal abnormalities, increased solid tumors and leukemias, aplastic anemia
- Autosomal recessive
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