Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome. Individuals with this condition are at risk for many different types of cancers in childhood and in adulthood. Families with LFS are typically characterized by cancers diagnosed at particularly young ages and individuals with multiple primary cancers in the LFS spectrum
Note: Because medical interventions can prevent severe morbidity and mortality, Li-Fraumeni syndrome is on the ACMG list of secondary findings | In summary, the ACMG document on reporting such findings makes the following recommendations
ACMG and NSGC Joint Practice Guidelines: Referral Indications for Cancer Predisposition Assessment
GeneReviews – Li-Fraumeni Syndrome
Risks of first and subsequent cancers among TP53 mutation carriers in the National Cancer Institute Li-Fraumeni syndrome cohort
NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic
Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing
ACOG Committee Opinion 793: Hereditary cancer syndromes and risk assessment
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