Evidence map›Paper›PMID 31706282›Full record

ArticleBMC cancer2019

BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy.

Bianca Costa Soares de Sá, Mariana Petaccia de Macedo, Giovana Tardin Torrezan, Juliana Casagrande Tavoloni Braga, Felipe Fidalgo, Luciana Facure Moredo, Rute Lellis, João Pereira Duprat, Dirce Maria Carraro

Open access · goldAbstract readCase Reports
In one paragraph

Article in BMC cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 36% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 10 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Bianca Costa Soares de SáSkin Cancer Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente, 211 Liberdade, São Paulo, SP, CEP: 01509-900, Brazil.
Mariana Petaccia de MacedoDepartment of Pathology, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente, 211 Liberdade, São Paulo, SP, CEP: 01509-900, Brazil.
Giovana Tardin TorrezanLaboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center, Rua Taguá, 440, São Paulo, SP, CEP: 0508-010, Brazil.
Juliana Casagrande Tavoloni BragaSkin Cancer Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente, 211 Liberdade, São Paulo, SP, CEP: 01509-900, Brazil.
Felipe FidalgoLaboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center, Rua Taguá, 440, São Paulo, SP, CEP: 0508-010, Brazil.
Luciana Facure MoredoSkin Cancer Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente, 211 Liberdade, São Paulo, SP, CEP: 01509-900, Brazil.
Rute LellisDepartment of Pathology, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente, 211 Liberdade, São Paulo, SP, CEP: 01509-900, Brazil.
João Pereira DupratSkin Cancer Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente, 211 Liberdade, São Paulo, SP, CEP: 01509-900, Brazil.
Dirce Maria CarraroLaboratory of Genomics and Molecular Biology, A.C. Camargo Cancer Center, Rua Taguá, 440, São Paulo, SP, CEP: 0508-010, Brazil. dirce.carraro@accamargo.org.br.ORCID http://orcid.org/0000-0001-5667-1418
AC Camargo Hospital · BR

Funding

CAPES 88887.136405/2017-06CNPq 465682/2014-6Fapesp 2013-23277-8Fapesp 2014/509443-1FUNADERSP 28/2015
6 · The paper itself

Abstract

backgroundBRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. CASE PRESENTATION: Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient's BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings.

conclusionsThis knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors.

Indexed as

AdultAgedAged, 80 and overCutaneous Malignant MelanomaDermoscopyFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMelanomaMicroscopy, ConfocalMiddle AgedNeoplastic Syndromes, HereditaryPedigreePrognosisBAP1 protein, humanTumor Suppressor ProteinsUbiquitin ThiolesteraseBAP1BIMTConfocal microscopyDermoscopyHereditary cancer syndromes

Identifiers

PMID31706282
PMCPMC6842488
OpenAlexW2986192918

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Registered trials

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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.