Li-Fraumeni syndrome
MONDO:0018875An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias.
Also known as: LFS, Li Fraumeni syndrome, Li-Fraumeni familial cancer susceptibility syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome caused by mutation in TP53, SBLA syndrome, TP53 Li-Fraumeni syndrome, TP53-related Li-Fraumeni syndrome
47 clinical trials for this condition and its sub-types, 16 tagged with Li-Fraumeni syndrome itself.
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Family study aims to unlock secrets of hereditary breast and ovarian cancer
Knowledge-focused CompletedThis completed study enrolled 377 individuals and families with a high risk of breast or ovarian cancer due to known or suspected genetic factors. Researchers collected medical records, questionnaires, and biological samples to better understand the disease's natural history and …
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Large study looks at how a 25-Gene cancer test affects patients and families
Knowledge-focused CompletedThis study looked at how a genetic test that checks 25 genes linked to hereditary cancers is used in clinics. Over 1,500 people with a personal or family history of cancer took part. Researchers collected blood samples and had participants fill out questionnaires over five years …
Sponsor: University of Southern California • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
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Can mindfulness help young adults with a high cancer risk?
Knowledge-focused CompletedThis study tested whether a mindful self-compassion program could be adapted for young adults aged 18 to 29 with Li-Fraumeni syndrome, a genetic condition that greatly raises cancer risk. Seven participants attended a one-day demonstration and gave feedback on how to make the pro…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC