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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 broad spectrum of cancers including early-onset cancers. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. Other cancers associated with LFS include leukemia, colorectal cancer, stomach cancer, lung cancer, melanoma, pediatric head and neck cancers, pancreatic cancer, and prostate cancer. Cancer survivors are at increased risk for developing additional primary cancers and treatment-related secondary cancers. The lifetime risks of cancer for women and men with classic LFS are 90% and 70%, respectively, and 50% of cancers occur prior to age 40 years.
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

174 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (174 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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