ArticleJournal of medical genetics2011
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.
Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01925599 (Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma), which is not on this map. Cited by 214 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Identification of Germline BAP1 Mutation In Subjects With Choroidal Nevi or Uveal Melanoma
Who cites it
214 citing papers in PubMed, 3 syntheses or guidelines pooled it, 477 citations in OpenAlex.
- GWAS meta-analysis provides new insights into uveal melanoma risk.British journal of cancer · 2026Pooled it
- Uveal melanoma: ESMO-EURACAN Clinical Practice Guideline for diagnosis, treatment and follow-up.ESMO open · 2026Guideline
- Cooperation and antagonism among cancer genes: the renal cancer paradigm.Cancer research · 2013Pooled it
- Clinical and Molecular Features of BAP1-Mutated Meningiomas: Case Series.Molecular carcinogenesis · 2026Article
- A tailored in vivo CRISPR screen identifies BAP1 as a potent tumor suppressor of sarcoma.JCI insight · 2026Article
- Review
- A high-penetrance intergenic variant at 9p21 confers melanoma susceptibility.Research square · 2026Article
- Case report: Onychopapilloma in a patient with BAP1 tumor predisposition syndrome-a useful clinical marker?Familial cancer · 2026Article
- Patient-derived outcome assessment of knowledge, communication, and management in those diagnosed with BAP1-tumor predisposition syndrome.Familial cancer · 2026Article
- BRCA1-Associated Protein 1 (BAP1) in Human Cancer and its Emerging Role as a Novel Potential Therapeutic Target.Current oncology reports · 2026Review
- High frequency and unique subtypes of meningioma in patients with BAP1 tumor predisposition syndrome.Journal of neuro-oncology · 2026Article
- Bapoma case report: BRCA1-associated protein-inactivated melanocytic tumor as first presenting symptom of BRCA1-associated protein tumor predisposition syndrome in a pediatric patient.JAAD case reports · 2026Article
- Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.Pigment cell & melanoma research · 2026Article
- Loss of FBXO11 establishes a stem cell program in acute myeloid leukemia by dysregulating LONP1.The Journal of clinical investigation · 2026Article
- Prognostic value of BAP1 expression in uveal melanoma: a comparative study with histopathological factors in a large Spanish cohort.Frontiers in oncology · 2026Article
- Tumor suppressor BAP1 emerges as a key regulator of metabolism and cell death in tumors.Frontiers in cell and developmental biology · 2026Review
- High Frequency and Unique Subtypes of Meningioma in Patients with BAP1 Tumor Predisposition Syndrome.medRxiv : the preprint server for health sciences · 2025Article
- First Report of BAP1-Associated Polyposis.American journal of medical genetics. Part A · 2025Article
- Molecular signatures define BAP1-altered meningioma as a distinct CNS tumor with deregulation of Polycomb repressive complex target genes.Neuro-oncology · 2025Article
- BAPoma, a rare nevus, as the key to a diagnosis of BAP1-associated tumor predisposition syndrome.Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2025Article
154 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer.
designA total of 53 unrelated UM patients with high risk for hereditary cancer and five additional family members of one proband were studied. Mutational screening was carried out by direct sequencing.
resultsOf the 53 UM patients studied, a single patient was identified with a germline BAP1 truncating mutation, c. 799 C→T (p.Q267X), which segregated in several family members and was associated with UM and other cancers. Biallelic inactivation of BAP1 and decreased BAP1 expression were identified in the UM, lung adenocarcinoma and meningioma tumours from three family members with this germline BAP1 mutation. Germline BAP1 variants of uncertain significance, likely non-pathogenic, were also identified in two additional UM patients.
conclusionThis study reports a novel hereditary cancer syndrome caused by a germline BAP1 mutation that predisposes patients to UM, lung carcinoma, meningioma, and possibly other cancers. The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.