DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Li-Fraumeni Syndrome

HIGH SEVERITY

A rare hereditary cancer syndrome caused by TP53 gene mutations. Extremely high lifetime cancer risk (nearly 100% in females, ~70% males). Early-onset cancers including sarcomas, breast cancer, brain tumors, and adrenal cortical carcinoma.

Global Affected

20.0K

Countries

15

Symptoms

Early-onset cancer
Multiple primary cancers
Rare cancers
Family history of cancer
Adrenal cortical carcinoma (children)

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

High lifetime cancer risk (90% by age 60). Multiple primary cancers common. Early detection through surveillance improves outcomes. No effect on lifespan if cancers successfully treated.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Intensive cancer surveillance (whole-body MRI, breast MRI). Risk-reducing mastectomy considered. No specific treatment for syndrome itself. Psychological support essential. Research on early detection methods.

Affected Countries

AustraliaBrazilCanadaCzech RepublicGermanySpainFranceUnited KingdomIsraelItalyJapanMexicoPhilippinesTaiwanUnited States

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.