Evidence map›Paper›PMID 37569793›Full record

ArticleInternational journal of molecular sciences2023

A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient.

Erika Bandini, Valentina Zampiga, Ilaria Cangini, Mila Ravegnani, Valentina Arcangeli, Tania Rossi, Isabella Mammi, Francesca Schiavi, Stefania Zovato, Fabio Falcini and 2 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 29% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Advanced Imaging Techniques for Early in-Vivo Discrimination of Fibrofolliculomas in Birt-Hogg-Dubé Syndrome.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2026
    Article
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

12 authors at 2 institutions in 1 country.

Erika BandiniBiosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.ORCID 0000-0002-4378-3573
Valentina ZampigaBiosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.
Ilaria CanginiBiosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.
Mila RavegnaniRomagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.
Valentina ArcangeliRomagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.
Tania RossiBiosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.ORCID 0000-0002-8337-9372
Isabella MammiFamilial Cancer Unit, Veneto Institute of Oncology IOV IRCSS, 35128 Padova, Italy.
Francesca SchiaviFamilial Cancer Unit, Veneto Institute of Oncology IOV IRCSS, 35128 Padova, Italy.
Stefania ZovatoFamilial Cancer Unit, Veneto Institute of Oncology IOV IRCSS, 35128 Padova, Italy.
Fabio FalciniRomagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.
Daniele CalistriBiosciences Laboratory, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.ORCID 0000-0002-5064-2023
Rita DanesiRomagna Cancer Registry, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) "Dino Amadori", 47014 Meldola, Italy.ORCID 0000-0002-6535-1608
Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori · ITIstituto Oncologico Veneto · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt-Hogg-Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt-Hogg-Dubé) patients has a very high incidence; thus, identifying this rare syndrome at early stages and preventing metastatic spread is crucial. Over the last decade, the advancement of Next Generation Sequencing (NGS) and the implementation of multigene panels for hereditary cancer syndromes (HCS) have led to a subsequent focus on additional genes and variants, including those of uncertain significance (VUS). Here, we describe a novel FLCN variant observed in a subject manifesting disorders that were suspected to be related to BHDS and with a family history of multiple cancers.

Indexed as

Birt-Hogg-Dube SyndromeCarcinoma, Renal CellKidney NeoplasmsNeoplastic Syndromes, HereditaryHumansProto-Oncogene ProteinsTumor Suppressor ProteinsFLCN protein, humanProto-Oncogene ProteinsTumor Suppressor Proteinscase reportFLCNgenetic testinggenetic variantsNGS

Identifiers

PMID37569793
PMCPMC10419138
OpenAlexW4385577948

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.