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
39 clinical trials for this condition and its sub-types, 6 tagged with PTEN hamartoma tumor syndrome itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of
Sub-types of PTEN hamartoma tumor syndrome
-
Proteus syndrome 2 trials
-
Proteus-like syndrome 0 trials
-
New registry aims to unlock secrets of rare genetic condition in kids
Knowledge-focused Recruiting nowThis study is creating a registry for children with PTEN Hamartoma Tumor Syndrome (PHTS), a rare genetic condition that increases cancer risk. Researchers will follow 100 participants for 3 years to link genetic changes with health outcomes. The goal is to develop better monitori…
Sponsor: Yale University • Aim: Knowledge-focused
Last updated Sep 02, 2026 00:00 UTC
-
Hunt for hidden cancer genes: families needed to unlock hereditary secrets
Knowledge-focused Recruiting nowThis study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
-
New study tracks cancer risk in kids with rare gene mutation
Knowledge-focused Recruiting nowThis study follows 50 children with PTEN gene mutations to better understand their risk of developing tumors. Participants will have yearly check-ups including blood tests, ultrasounds, and skin exams for 5 years. The goal is to create better monitoring guidelines for these child…
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:04 UTC