Evidence map›Paper›PMID 37340184›Full record

ArticleMolecular biology reports2023

Unexpected finding of a rare pathogenic germline BRCA1 variant in an intrahepatic cholangiocarcinoma using the Oncomine Focus DNA assay: clinical and diagnostic implications.

Maria De Bonis, Francesco Mannavola, Lisa Salvatore, Elisa De Paolis, Camilla Nero, Luciano Giacò, Giampaolo Tortora, Felice Giuliante, Andrea Urbani, Giovanni Scambia and 2 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Molecular biology reports, 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
0.6field-weighted citation impact, top 31% 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. 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 4 institutions in 1 country.

Maria De BonisDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Francesco MannavolaDivision of Medical Oncology, AOU Consorziale Policlinico di Bari, 70124, Bari, Italy.
Lisa SalvatoreUnit of Medical Oncology, Comprehensive Cancer Center, Fondazione Policlinico Universitario, Agostino Gemelli IRCCS, Rome, Italy.
Elisa De PaolisDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Camilla NeroCatholic University of the Sacred Heart, Rome, Italy.
Luciano GiacòBioinformatics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Giampaolo TortoraUnit of Medical Oncology, Comprehensive Cancer Center, Fondazione Policlinico Universitario, Agostino Gemelli IRCCS, Rome, Italy.
Felice GiulianteHepatobiliary Surgery Unit, Fondazione Policlinico Universitario A. Gemelli IRCSS, Università Cattolica del Sacro Cuore, Rome, Italy.
Andrea UrbaniDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Giovanni ScambiaCatholic University of the Sacred Heart, Rome, Italy.
Nicola NormannoCell Biology and Biotherapy Unit, Istituto Nazionale Tumori "Fondazione G. Pascale"-IRCCS, Naples, Italy.
Angelo MinucciDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. angelo.minucci@policlinicogemelli.it.ORCID http://orcid.org/0000-0002-0833-4334
Università Cattolica del Sacro Cuore · ITAgostino Gemelli University Polyclinic · ITAzienda Universitaria Ospedaliera Consorziale - Policlinico Bari · ITIstituto Nazionale Tumori IRCCS "Fondazione G. Pascale" · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCholangiocarcinoma (CCA) is a malignant tumor arising from the epithelial cells of the bile ducts and is the second most common liver cancer after hepatocellular carcinoma. Recently, our Institution launched a Comprehensive Genomic Profiling (CGP) program (named FPG500 program), set up to provide a complete molecular characterization through the TruSight Oncology 500 High Throughput (TSO500HT) solution and samples that do not reach pre-set sample quantity and/or quality thresholds required for TSO500HT, are addressed to Oncomine Focus DNA Assay (OFA) and the Archer's FusionPlex Lung Panel (AFL). METHODS AND

resultsHere we report the case of a patient with iCCA enrolled in the FPG500 program and screened by the orthogonal workflow (OFA/AFL). Although BRCA1 is not among the genes declared in the OFA panel, we unexpectedly detected a pathogenic variant in this gene (c.5278-2del, rs878853285).

conclusionsThis case highlights the diagnostic capabilities of CGP, now widely used in both clinical practice and academic setting. The incidental involvement of BRCA1 focuses attention on the role of BRCA genes in biliary tract cancers. Finally, as an orthogonal test confirmed the germline origin of BRCA1 c.5278-2del variant, the germline implications of CGP need to be considered.

Indexed as

Bile Duct NeoplasmsCholangiocarcinomaLiver NeoplasmsBile Ducts, IntrahepaticBRCA1 ProteinDNAHumansBRCA1 ProteinBRCA1 protein, humanDNABRCA1/2CholangiocarcinomaComprehensive genomic profilingFFPEFPG500 programOncomine focus DNA assayTruSight oncology 500 high throughputTSO500HT

Identifiers

PMID37340184
OpenAlexW4381332356

What OpenQuestion holds

Textmetadata
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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.