Li-Fraumeni syndrome

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Li-Fraumeni syndrome

genetics

genetics

Alagille syndrome (NORD)

Familial adenomatous polyposis

Hereditary spherocytosis

Huntington disease

Li-Fraumeni syndrome

Multiple endocrine neoplasia

Myotonic dystrophy

Neurofibromatosis

Polycystic kidney disease

Treacher Collins syndrome

Tuberous sclerosis

von Hippel-Lindau disease

Alpha-thalassemia

Beta-thalassemia

Cystic fibrosis

Friedreich ataxia

Gaucher disease (NORD)

Glycogen storage disease type I

Glycogen storage disease type II (NORD)

Glycogen storage disease type III

Glycogen storage disease type IV

Glycogen storage disease type V

Hemochromatosis

Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)

Niemann-Pick disease type C

Niemann-Pick disease types A and B (NORD)

Primary ciliary dyskinesia

Tay-Sachs disease (NORD)

Cri du chat syndrome

Williams syndrome

Angelman syndrome

Prader-Willi syndrome

Beckwith-Wiedemann syndrome

Mitochondrial myopathy

Klinefelter syndrome

Turner syndrome

Fragile X syndrome

Down syndrome (Trisomy 21)

Edwards syndrome (Trisomy 18)

Patau syndrome (Trisomy 13)

Alport syndrome

Fabry disease (NORD)

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Lesch-Nyhan syndrome

Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)

Muscular dystrophy

Ornithine transcarbamylase deficiency

Wiskott-Aldrich syndrome

X-linked agammaglobulinemia

Autosomal trisomies: Pathology review

Miscellaneous genetic disorders: Pathology review

Muscular dystrophies and mitochondrial myopathies: Pathology review

Flashcards

Li-Fraumeni syndrome

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Key Takeaways

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.