Living with BAP1-related tumor predisposition syndrome
An inherited condition that raises the risk of several types of tumors in the skin, eyes, kidneys, and the lining of the chest and belly.
Understanding BAP1-related tumor predisposition syndrome
Tumors are most often in the skin, eyes, kidneys, and the mesothelium, the tissue lining the chest, belly, and organs. Family members can have different tumor types. Some people have many skin growths called atypical Spitz tumors. An eye cancer called uveal melanoma is the most common cancer in this syndrome. Onset is listed as adulthood.
Signs & symptoms
GARD doesn't list common symptoms. It lists these as less common:
- Skin growths (atypical Spitz tumors, from summary)
- Skin melanoma
- Eye melanoma (uveal melanoma)
- Cancer of the lining of the belly or chest (mesothelioma)
- Kidney cancer (clear cell renal cell carcinoma, from summary)
- Meningioma (a tumor of the brain's covering)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in BAP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the BAP1 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: bap1 tumor predisposition syndrome; common syndrome; tpds1; tumor predisposition syndrome 1; tumor susceptibility linked to germline bap1 mutations; tumour susceptibility linked to germline bap1 mutations
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with BAP1-related tumor predisposition syndrome.
Explore research for BAP1-related tumor predisposition syndrome
Explore actively recruiting BAP1-related tumor predisposition syndrome studies with HealthSpark.
Find actively recruiting studies for BAP1-related tumor predisposition syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting BAP1-related tumor predisposition syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for BAP1-related tumor predisposition syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your BAP1-related tumor predisposition syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.