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Li-Fraumeni Syndrome

Li-Fraumeni Syndrome. By: Amber Spiering, Lisa Smith, Dan Poor, Jason Powell, Amit Khosla, & Liz Viola. What is Li-Fraumeni Syndrome?. Studies by Li and Fraumeni led to first evidence of inherited predisposition to cancer. Modes of Inheritance:. Phenotype looks autosomal dominant

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Li-Fraumeni Syndrome

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  1. Li-Fraumeni Syndrome By: Amber Spiering, Lisa Smith, Dan Poor, Jason Powell, Amit Khosla, & Liz Viola

  2. What is Li-Fraumeni Syndrome? • Studies by Li and Fraumeni led to first evidence of inherited predisposition to cancer

  3. Modes of Inheritance: • Phenotype looks autosomal dominant • Molecular level autosomal recessive

  4. Main Symptoms: • the presence of sarcoma in a proband at less than 45 years of age, combined with • sarcoma, breast cancer, primary brain tumor, leukemia, or adrenocortical carcinoma in a first-degree relative younger than 45 years of age and • cancer diagnosed in another close relative less than 45 years old or sarcoma at any age.

  5. Frequency of Syndrome: • Case Study of 5 Families: • By 40 years of age 50% had Cancer • By 60 years of age 90% had Cancer • Lifetime Cancer Risk 85% • 5-10 cases of soft-tissue sarcoma/1million children under 15 years old (5-10% of which have family histories of malignancies consistent with LFS)

  6. Biochemistry Behind Trait: • TP53(p53), a tumor suppressor gene, which is located on chromosome 17p13 • Most mutations occur in exons 4,5,6,7,8 • Types of mutations include: • missense mutations (86%). • nonsense mutations (5%) • deletions or insertions (8%) • splice-site acceptor mutations

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