BAP1-related tumor predisposition syndrome
MONDO:0013692BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.
Also known as: BAP1-related tumor predisposition syndrome, tumor susceptibility linked to germline BAP1 mutations, tumour susceptibility linked to germline BAP1 mutations, BAP1 tumor predisposition syndrome, BAP1 tumour predisposition syndrome, TPDS, tumor predisposition syndrome, tumour predisposition syndrome
37 clinical trials for this condition and its sub-types, 6 tagged with BAP1-related tumor predisposition syndrome itself.
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New hope for rare cancer: oral pill targets early mesothelioma in High-Risk patients
Disease control Recruiting nowThis study tests an oral medication (decitabine/cedazuridine) in people with BAP1 gene mutations who have early-stage mesothelioma that is not yet causing symptoms. The goal is to see if the drug can stop the cancer from growing or shrink it. About 9 participants will receive tre…
Phase 2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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New study aims to catch mesothelioma early in High-Risk families
Knowledge-focused Recruiting nowThis study follows 300 adults aged 30 and older who have or may have a BAP1 gene mutation, which raises the risk for mesothelioma and other cancers. Researchers will use advanced CT scans, blood tests, and minimally invasive camera procedures to look for early signs of cancer. Pa…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC
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Scientists track families with rare gene mutation to uncover cancer clues
Knowledge-focused Recruiting nowThis study follows people with inherited BAP1 gene mutations, which raise the risk of mesothelioma and other cancers. Researchers will track participants over many years, collecting medical history, blood samples, and scans to understand how these mutations lead to cancer. The go…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Aug 28, 2026 00:00 UTC
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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
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Gene study aims to unlock cancer risks in families
Knowledge-focused Recruiting nowThis study is looking for 500 people with certain cancers (like eye or skin melanoma, kidney cancer, or mesothelioma) and their family members to understand how common BAP1 gene mutations are. Researchers will collect medical history and questionnaires to learn about cancer risks…
Sponsor: Mohamed Abdel-Rahman • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC