Radiation Oncology/Cancer Syndromes/Fanconi Anemia

Fanconi Anemia


 * wikipedia entry
 * DNA repair chapter


 * 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