Evidence map›Paper›PMID 36148247›Full record

ArticleCase reports in genetics2022

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion.

Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski

Open access · goldAbstract readCase Reports
In one paragraph

Article in Case reports in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 41% 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

5 citing papers in PubMed, 6 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

7 authors at 3 institutions in 1 country.

Dinusha PandithanAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.ORCID https://orcid.org/0000-0001-7927-5418
Sonja KlebeAnatomical Pathology, SA Pathology and Flinders University, Flinders Medical Centre Site, Bedford Park, South Australia, Australia.
Grace McKavanaghMolecular Pathology, Mater Hospital Brisbane, South Brisbane, Australia.
Lesley RawlingsGenetics and Molecular Pathology, SA Pathology, Adelaide Site, South Australia, Australia.
Sui YuGenetics and Molecular Pathology, SA Pathology, Adelaide Site, South Australia, Australia.
Jillian NichollGenetics and Molecular Pathology, SA Pathology, Adelaide Site, South Australia, Australia.
Nicola PoplawskiAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.ORCID https://orcid.org/0000-0002-9372-3325
South Australia Pathology · AURoyal Adelaide Hospital · AUMater Adult Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BRCA-1-associated protein-1 (BAP1) tumour predisposition syndrome (BAP1-TPDS) is a dominant hereditary cancer syndrome. The full spectrum of associated malignancies is yet to be fully characterised. We detail the phenotypic features of the first reported family with a whole BAP1 gene deletion. This report also adds to the emerging evidence that the rhabdoid subtype of meningioma is a part of the clinical spectrum of this tumour predisposition syndrome.

Identifiers

PMID36148247
PMCPMC9489403
OpenAlexW4295816709

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.