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Li-Fraumeni syndrome 1

Summary

Excerpted from the GeneReview: Li-Fraumeni Syndrome
Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a diverse spectrum of childhood- and adult-onset malignancies. The lifetime risk of cancer in individuals with LFS is ≥70% for men and ≥90% for women. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. LFS is associated with an increased risk of several additional cancers including leukemia, lymphoma, gastrointestinal cancers, cancers of head and neck, kidney, larynx, lung, skin (e.g., melanoma), ovary, pancreas, prostate, testis, and thyroid. Individuals with LFS are at increased risk for cancer in childhood and young adulthood; survivors are at increased risk for multiple primary cancers.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Katherine Schneider
Kristin Zelley
Kim E Nichols
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Available tests

195 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (195 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCC7, BMFS5, LFS1, P53, TRP53, TP53
    Summary: tumor protein p53

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

Clinical resources

Practice guidelines

  • NICE, 2023
    UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

Molecular resources

Consumer resources

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