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Li-Fraumeni syndrome

Orpha number ORPHA524
Synonym(s) -
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Adulthood
ICD-10
  • D48.9
OMIM
UMLS
  • C0085390
MeSH
  • D016864
MedDRA
  • 10066795
SNOMED CT
  • 428850001

Summary

Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). The two forms are classic LFS and Li-Fraumeni-like (LFL) syndrome.


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Detailed information

Clinical genetics review
  • EN (2013)
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