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Li-Fraumeni syndrome

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Genetics

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Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
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Autosomal trisomies: Pathology review
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Li-Fraumeni syndrome

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Summary

Li-Fraumeni syndrome (LFS) is a rare inherited genetic disorder. People with Li-Fraumeni syndrome have an increased risk of developing multiple malignancies, typically sarcoma, breast carcinoma, leukemia, and adrenocortical carcinoma cancer.

In this condition, cancers often develop cancer at a young age and people are also more likely to have multiple tumors than people without this syndrome. The cause of Li-Fraumeni syndrome is a mutation in the p53 tumor suppressor gene. This gene provides instructions for making a protein that regulates the cell cycle and prevents genomic mutations that might lead to these cancers.