Li-Fraumeni syndrome

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Li-Fraumeni syndrome

Molecular biology

Molecular biology

Nuclear structure

DNA structure

Transcription of DNA

Translation of mRNA

Gene regulation

Epigenetics

Amino acids and protein folding

Protein structure and synthesis

Nucleotide metabolism

DNA replication

Lac operon

DNA damage and repair

Cell cycle

Mitosis and meiosis

DNA mutations

Disorders of molecular biology

Lesch-Nyhan syndrome

Orotic aciduria

Adenosine deaminase deficiency

Xeroderma pigmentosum

Li-Fraumeni syndrome

Bloom syndrome

Fanconi anemia

McCune-Albright syndrome

Acute radiation syndrome

Purine and pyrimidine synthesis and metabolism disorders: Pathology review

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Li-Fraumeni syndrome

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Adrenal carcinomas

Li-Fraumeni syndrome p. 222

Li-Fraumeni syndrome

osteosarcomas p. 474

tumor suppressor genes in p. 222

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.

Elsevier

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