PTEN hamartoma tumor syndrome
MONDO:0017623An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.
Also known as: PHTS, PTEN hamartoma tumor syndrome, PTEN-related Hamartoma tumor syndrome
46 clinical trials for this condition and its sub-types.
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Broader categories
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Could a cancer drug boost social abilities in rare genetic condition?
Disease control Not yet recruitingThis study tests whether everolimus, a drug already approved for other conditions, can safely improve social abilities in people with PTEN Hamartoma Tumor Syndrome (PHTS). About 60 adults and children with PHTS and social difficulties will take either everolimus or a placebo for …
Phase: PHASE2, PHASE3 • Sponsor: Boston Children's Hospital • Aim: Disease control
Last updated Jun 27, 2026 13:03 UTC
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New online tool aims to help families uncover hidden cancer risks
Knowledge-focused Not yet recruitingThis study tests whether a new online program can help families understand their inherited cancer risk and encourage relatives to get low-cost genetic testing. Researchers will enroll 400 adults who carry a cancer-related gene change and their family members. The goal is to see i…
Phase: NA • Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
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50,000 samples to unlock secrets of hereditary tumors
Knowledge-focused Not yet recruitingThis study will collect blood and tumor tissue from up to 50,000 adults with hereditary or genetic-linked cancers. Researchers will use these samples to create lab-grown tumor models, like mini-tumors, to study how these cancers work and test new treatments. The goal is to better…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC