Peutz-Jeghers syndrome
MONDO:0008280An autosomal dominant disorder caused by pathogenic variants in the STK11 gene, characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of GI and extra-GI malignancies.
Also known as: Jeghers-Peutz syndrome, PJS, Peutz Jeghers Syndrome, Peutz's syndrome, Peutz-Jeghers syndrome, STK11-related Peutz-Jeghers syndrome, hamartomatous intestinal polyposis, polyps and spots syndrome
42 clinical trials for this condition and its sub-types, 9 tagged with Peutz-Jeghers syndrome itself.
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A watchful eye: could alternating scans outsmart pancreatic cancer?
Diagnosis CompletedThis study follows people with a significantly elevated risk of pancreatic cancer—due to inherited gene mutations or strong family history—who choose to undergo early detection testing. Participants receive endoscopic ultrasound (EUS) and MRI scans on an alternating schedule ever…
Sponsor: White Plains Hospital • Aim: Diagnosis
Last updated Aug 27, 2026 00:00 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 Sep 18, 2026 00:00 UTC
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Scientists uncover genetic secrets behind rare hormone disorders
Knowledge-focused CompletedThis study looked at nearly 1,400 people with rare conditions like PPNAD, Carney Complex, and Peutz-Jeghers syndrome. The goal was to find the genetic causes and link them to specific symptoms. Researchers used clinical exams and genetic testing to better understand how these dis…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 21, 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