{"id":27124,"date":"2024-05-26T13:03:50","date_gmt":"2024-05-26T11:03:50","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=27124"},"modified":"2025-08-27T11:02:59","modified_gmt":"2025-08-27T09:02:59","slug":"li-fraumeni-syndrome","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/li-fraumeni-syndrome\/","title":{"rendered":"Li-Fraumeni Syndrome"},"content":{"rendered":"

Li-Fraumeni Syndrome \u2013\u00a0Definition<\/h2><\/div>
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Li-Fraumeni syndrome (LFS; OMIM #151623) is a highly aggressive cancer predisposition syndrome that often leads to malignancies in childhood. It predisposes to bone and soft tissue sarcomas, various brain tumors, premenopausal breast cancer, adrenocortical carcinoma (ACC), leukemia and other neoplasias.<\/p>\n<\/div>

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Synonyms:<\/p>\n<\/div><\/div><\/div>

Sarcoma Breast Leukemia, Adrenal Gland Cancer Syndrome<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

TP53<\/em> (tumor protein 53, tumor suppressor gene)<\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade product:<\/p>\n<\/div><\/div><\/div>

p53<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Transcription factor that is activated by cellular stress (e.g. DNA damage) and regulates multiple anti-tumor signalling pathways<\/p>\n<\/div><\/div><\/div><\/div>

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Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>

Autosomal dominant, de novo<\/em> mutations (~7-25%)<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

~ 1:5,000, in Brazil sometimes much more often<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

It is not yet fully understood. There is evidence that dominant negative pathogenic variants in the DNA-binding domain are associated with the highest risk of cancer. However, no predictions can be made for the individual patient based on the genotype. There are also many modifying factors.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

Almost 100% cumulative tumor incidence up to the age of 70 (50% for women up to age 31. LJ; 50% for men up to 46. LJ)
\n\u2013 4% in the first year of life
\n\u2013 22% until the age of 5
\n\u2013 41% until the age of 18<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>