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
50 clinical trials for this condition and its sub-types.
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Can a pill shield ears from chemo damage?
Prevention CompletedThis study tests whether the drug SENS-401 can prevent hearing loss caused by cisplatin, a common chemotherapy. Adults with cancer who are scheduled to receive cisplatin take SENS-401 before, during, and after treatment. Hearing is measured with a standard test to see if the drug…
Phase: PHASE2 • Sponsor: Sensorion • Aim: Prevention
Last updated Jul 04, 2026 00:00 UTC
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Can a registry help more families get tested for cancer genes?
Knowledge-focused CompletedThis study looked at 545 people with hereditary cancer syndromes and their relatives. It compared the usual method of asking patients to share testing information with family members to a new method where a registry also sends reminders. The goal was to see if the registry-aided …
Phase: NA • Sponsor: National Cancer Centre, Singapore • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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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 Jun 27, 2026 13:00 UTC
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Digital tool helps families navigate Kids' cancer risk
Knowledge-focused CompletedThis study tested whether digital care plans and text message reminders help families of children with cancer predisposition syndromes better understand their child's condition. Researchers enrolled 177 parents and measured changes in knowledge and how acceptable the digital tool…
Phase: NA • Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 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
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Immunotherapy side effects under the microscope: new study monitors autoantibodies
Knowledge-focused CompletedThis completed study followed 183 cancer patients starting checkpoint inhibitor therapy to see how often they develop autoantibodies—proteins that can mistakenly attack the body's own tissues. Researchers collected blood samples to track changes in several types of autoantibodies…
Sponsor: CHU de Reims • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Mailed DNA tests could help families catch cancer early
Knowledge-focused CompletedThis study looked at whether mailing at-home genetic testing kits to relatives of people with hereditary cancer gene variants could increase the number of relatives who get tested. Researchers compared this approach to usual care in 108 participants. The goal was to see if making…
Phase: NA • Sponsor: University of Texas Southwestern Medical Center • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:30 UTC