Monique Shared "1st Aid - Biochemistry" - 98 Picmonics
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Type II associated with Endometrial, Ovarian and Skin Cancers
3 Relatives with Colon Cancer
Occurs Across 2 Generations
1 Relative Diagnosed < 50 Years Old
Defect in DNA repair
Signs & Symptoms
Sensitive to Radiation
Defective Tumor Suppressor Gene
Increased risk of Cancer, Leukemias, and Lymphomas
Increased AFP levels
Repeated sinopulmonary infections
Most common form of inherited aplastic anemia
Caused by inherited defects in non-homologous end-joining
Signs and Symptoms
Hypopigmented Areas of Skin
Cafe au lait spots
Elevated serum AFP in 50% of cases
Increased HbF (Fetal Hemoglobin)
Culturing lymphocytes and observing extensive chromosomal breakage in the presence of DNA cross-linking agents
Risk of developing
Acute myelogenous leukemia (AML)
Squamous cell carcinoma of head, neck, or vulva
Dactinomycin (Actinomycin D)
Gestational Trophoblastic Malignancy
Blocks RNA Polymerization
Haemophilus influenzae Type B
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