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ORPHA:289539

BAP1-related tumor predisposition syndrome

high confidenceDisorder

Also known as: Tumor susceptibility linked to germline BAP1 mutations

Publications

6

19.9th percentile

Trials

4

Interventional, condition-specific

Researchers

49

Distinct authors in sample

Gene link

BAP1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

BAP1-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.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

tumor susceptibility linked to germline BAP1 mutations · tumour susceptibility linked to germline BAP1 mutations

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — BAP1

  2. LiteraturePresent

    6 matched papers (5 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (BAP1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

6

6 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

6 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)

Phrase hits: 6 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

49

Distinct author names in 6 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Agarwal A1 paper · 2024

    From the Department of Radiology (A.A., G.B., N.S., P.A.), Mayo Clinic, Jacksonville, Florida agarwal.amit@mayo.edu.

    Papers in Europe PMC
  2. 02
    Ajmera P1 paper · 2024

    From the Department of Radiology (A.A., G.B., N.S., P.A.), Mayo Clinic, Jacksonville, Florida.

    Papers in Europe PMC
  3. 03
    Alsoudi AF1 paper · 2025

    Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  4. 04
    Ardizzoni A1 paper · 2026

    Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  5. 05
    Bathla G1 paper · 2024

    From the Department of Radiology (A.A., G.B., N.S., P.A.), Mayo Clinic, Jacksonville, Florida.

    Papers in Europe PMC
  6. 06
    Borque Rodríguez-Maimón E1 paper · 2021

    Complejo Hospitalario de Navarra, Department of Ophthalmology, Calle Irunlarrea s/n, 31008 Pam-plona, Spain.

    Papers in Europe PMC
  7. 07
    Broseghini E1 paper · 2026

    IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

    Papers in Europe PMC
  8. 08
    Conci N1 paper · 2026

    Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Bologna, Italy.

    Papers in Europe PMC
  9. 09
    Córdoba Iturriagagoitia A1 paper · 2021

    Complejo Hospitalario de Navarra, Department of Pathology, Calle Irunlarrea s/n, 31008 Pamplo-na, Spain.

    Papers in Europe PMC
  10. 10
    Culver JO1 paper · 2016

    USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).

high confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"BAP1-related tumor predisposition syndrome" OR "Tumor susceptibility linked to germline BAP1 mutations" OR "tumour susceptibility linked to germline BAP1 mutations"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"BAP1-related tumor predisposition syndrome" OR "Tumor susceptibility linked to germline BAP1 mutations" OR "tumour susceptibility linked to germline BAP1 mutations" OR "BAP1"

Recall-expansion terms: BAP1

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 7 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T12:14:58.381Z