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
41 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Can an app keep young people with cancer genes on track?
Disease control Recruiting nowThis study tests a software platform called Nest that helps young adults (ages 18-49) with inherited cancer risks manage their care. Participants will use the tool to track screening and share information with doctors and family. Researchers will compare users to non-users to see…
Phase: NA • Sponsor: Nest Genomics • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
-
Simple blood test aims to catch cancers early in genetically prone patients
Diagnosis Recruiting nowThis study is testing a blood test called GRAIL Galleri that looks for signs of many different cancers at once. It is being offered to 1000 people who have a high risk of cancer due to inherited genetic conditions. The goal is to see if the test can find cancers early, when they …
Phase: NA • Sponsor: Dana-Farber Cancer Institute • Aim: Diagnosis
Last updated Jun 27, 2026 08:12 UTC
-
NIH launches major study to unravel genetic metabolic mysteries
Knowledge-focused Recruiting nowThis study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 03, 2026 23:00 UTC
-
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 Jul 03, 2026 23:00 UTC
-
Scientists bank tumors and blood to unlock cancer secrets
Knowledge-focused Recruiting nowThis study collects blood, urine, saliva, and tissue samples from nearly 6,000 people who have or may have cancer, including rare inherited forms. The samples are stored and used for research to understand the genetic and molecular basis of cancer. No new treatment is being teste…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Jul 03, 2026 23:00 UTC
-
Scientists launch massive tumor repository to unlock cancer secrets
Knowledge-focused Recruiting nowThis study collects extra blood, urine, and tumor samples from children and adults with certain cancers to build a large tissue repository. Researchers will analyze these samples to learn more about the genetic and molecular makeup of these tumors. The goal is to support future s…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Jul 03, 2026 23:00 UTC
-
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 Jul 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
-
Can young adults at genetic cancer risk keep up with checkups after pediatric care ends?
Knowledge-focused Recruiting nowThis study follows 56 young adults who have a genetic condition that raises their cancer risk. After they graduate from pediatric care at St. Jude, researchers track whether they find adult doctors and continue regular cancer screenings over 8 years. Participants fill out surveys…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
-
Can online tools boost genetic testing in families with hereditary cancer?
Knowledge-focused Recruiting nowThis study tests whether web-based tools can help people with hereditary cancer syndromes share risk information with their relatives and encourage them to get genetic testing. Researchers will enroll 625 participants (patients and their relatives) and track how many use the tool…
Phase: NA • Sponsor: University of Michigan Rogel Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC
-
Massive study aims to decode cancer genes for better family counseling
Knowledge-focused Recruiting nowThis study looks at genetic changes in families to figure out which ones truly increase cancer risk. Researchers will analyze DNA from 11,000 people, including those with certain gene variants and their relatives. The goal is to improve genetic counseling and help doctors decide …
Phase: NA • Sponsor: Institut Curie • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC
-
New online platform aims to help young adults navigate genetic cancer risks
Knowledge-focused Recruiting nowThis study is testing a new online platform called Nest for young adults aged 18-39 who have had genetic testing for cancer risk. The platform gives both patients and their doctors access to updated information about genetic findings. Researchers want to see if the tool is easy t…
Phase: NA • Sponsor: Dana-Farber Cancer Institute • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
-
Can better conversations prevent cancer? new study investigates
Knowledge-focused Recruiting nowThis study from St. Jude Children's Research Hospital looks at how parents and children (ages 10-24) talk about the child's genetic risk for cancer. The goal is to understand what helps or hinders these conversations, so doctors can create better education programs. The study wil…
Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
-
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
-
New study uses DNA tests to catch blood cancers before they start
Knowledge-focused Recruiting nowThis study is looking at 2,000 people who have early warning signs of blood cancers or bone marrow failure. Researchers use a special genetic test (next generation sequencing) to find changes in cancer-related genes. The goal is to better understand who is at risk and to catch th…
Phase: NA • Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:07 UTC
-
Community clinics test smarter ways to spot cancer genes
Knowledge-focused Recruiting nowThis study compares two methods of offering cancer genetic testing to patients in community health centers. One method lets primary care doctors order tests directly, while the other uses a specialist model with extra support. Researchers will track how many patients get tested a…
Phase: NA • Sponsor: University of Illinois at Chicago • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
-
Can a website replace the genetic counselor? new study tests online cancer risk testing
Knowledge-focused Recruiting nowThis study compares a self-guided online genetic testing program to standard in-person counseling for people at risk of hereditary cancer. About 1,000 adults who meet national guidelines for genetic testing will participate. The goal is to see if the online option works just as w…
Phase: NA • Sponsor: Abramson Cancer Center at Penn Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
-
Can doctors help families unlock Life-Saving genetic secrets?
Knowledge-focused Recruiting nowThis study looks at a new way to help family members of cancer patients learn if they have inherited a higher risk for cancer. About 240 people with a known cancer gene change will be asked to share their test results with their close relatives, either on their own or with help f…
Phase: NA • Sponsor: City of Hope Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC
-
Scientists hunt for hidden cancer genes in 1,500 patients
Knowledge-focused Recruiting nowThis study aims to discover new genes that increase the risk of developing cancer, especially in people with a strong family history or unusual cancer patterns. Researchers will analyze genetic data from 1,500 adults and children who have or may develop inherited cancer. The goal…
Sponsor: Memorial Sloan Kettering Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:04 UTC
-
New study tracks kids prone to cancer to uncover early warning signs
Knowledge-focused Recruiting nowThis study follows children under 21 who have a genetic condition that raises their risk of developing cancer, along with their relatives. Researchers will collect health information and samples over time to better understand how these cancers develop and how to catch them early.…
Sponsor: Emory University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC
-
Chatbot vs. counselor: can AI help rural patients get cancer genetic testing?
Knowledge-focused Recruiting nowThis study compares two ways to provide pre-test genetic counseling to people at high risk for hereditary cancers: a chatbot (Genetic Information Assistant) versus a live telegenetics session with a genetic counselor. About 96 participants will be randomly assigned to one method,…
Phase: NA • Sponsor: University of Virginia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC
-
Scientists hunt for hidden genes behind hereditary cancers
Knowledge-focused Recruiting nowThis study collects tissue samples, medical data, and family histories from over 1,100 people being screened for colorectal or endometrial cancer. Researchers hope to discover new genes and mechanisms that increase cancer risk, especially in hereditary cancer syndromes. The goal …
Sponsor: Weill Medical College of Cornell University • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:38 UTC