vi medicine informatics
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Li-Fraumeni syndrome is characterized by an autosomal dominant mutation in TP53 that is associated with multiple malignancies at an early age. Commonly-associated malignancies can be remembered with the mnemonic SBLA cancer syndrome: Sarcoma, Breast, Leukemia, and Adrenal gland cancers. In Li-Fraumeni syndrome, one abnormal copy of TP53 is inherited, leading to heterozygosity of p53.
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