Evidence map›Paper›PMID 33316260›Full record

ArticleAmerican journal of ophthalmology2021

Uveal Melanoma in BAP1 Tumor Predisposition Syndrome: Estimation of Risk.

Nakul Singh, Rahul Singh, Randy Chris Bowen, Mohamed H Abdel-Rahman, Arun D Singh

Open access · greenAbstract read
In one paragraph

Article in American journal of ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.7field-weighted citation impact, top 8% 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

15 citing papers in PubMed, 26 citations in OpenAlex.

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  14. Germ LineOcular oncology and pathology · 2021
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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

5 authors at 4 institutions in 1 country.

Nakul SinghMassachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA.
Rahul SinghDepartment of Economics and Statistics and Data Science Center, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.
Randy Chris BowenDepartment of Ophthalmic Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Mohamed H Abdel-RahmanDepartment of Ophthalmology and Visual Science, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA; Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Arun D SinghDepartment of Ophthalmic Oncology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA. Electronic address: singha@ccf.org.
Cleveland Clinic · USMassachusetts Eye and Ear Infirmary · USMassachusetts Institute of Technology · USThe Ohio State University Wexner Medical Center · US

Funding

Hereditary cancer predisposition syndromes and uveal melanomaR21CA191943 · NCI · OHIO STATE UNIVERSITY · PI ABDEL-RAHMAN, MOHAMED H. · 2015 to 2016
$368k
Evaluation of an OCA2 enhancer variant as a modifier of the phenotype of BAP1-Tumor predisposition syndromeR21CA219884 · NCI · OHIO STATE UNIVERSITY · PI ABDEL-RAHMAN, MOHAMED H. · 2018 to 2019
$368k
NCI NIH HHS R21 CA191943NCI NIH HHS R21 CA219884
6 · The paper itself

Abstract

purposeTo estimate point prevalence of uveal melanoma in the patients with germline BAP1 pathogenic variant.

designCohort study with risk assessment using Bayesian analysis.

methodsThe point prevalence estimate was obtained by Bayes's rule of reverse conditional probabilities. The probability of uveal melanoma given that BAP1 mutation exists was derived from the prevalence of uveal melanoma, prevalence of germline BAP1 pathogenic variants, and the probability of germline BAP1 pathogenic variant given that uveal melanoma is present. Confidence intervals (CIs) for each variable were calculated as the mean of Bernoulli random variables and for the risk estimate, by the delta method. The age at diagnosis and the gender of the uveal melanoma patients with BAP1 germline pathogenic variants obtained from previous publications or from authors' unpublished cohort was compared with those in the Surveillance, Epidemiology, and End Results (SEER) database.

resultsThe point prevalence of uveal melanoma in patients with the germline BAP1 pathogenic variants in the US population was estimated to be 2.8% (95% CI, 0.88%-4.81%). In the SEER database, the median age at diagnosis of uveal melanomas was 63 (range 3-99 years) with a male-to-female ratio of 1.01:1. In comparison, uveal melanoma cases with BAP1 germline pathogenic variants from the US population (n = 27) had a median age at diagnosis of 50.5 years (range 16-71).

conclusionsQuantification of the risk of developing uveal melanoma can enhance counseling regarding surveillance in patients with germline BAP1 pathogenic variant.

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAgedBayes TheoremDatabases, FactualFemaleHumansMaleMelanomaMiddle AgedPrevalenceProbabilityRisk AssessmentSEER ProgramTumor Suppressor ProteinsBAP1 protein, humanTumor Suppressor ProteinsUbiquitin Thiolesterase

Identifiers

PMID33316260
PMCPMC8059106
OpenAlexW3112081088

What OpenQuestion holds

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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.