Evidence map›Paper›PMID 41475884›Full record

ArticleBMJ health & care informatics2025

Machine learning prediction of germline

Giovanni Innella, Giulia Erini, Antonio De Leo, Lea Godino, Luca Caramanna, Simona Ferrari, Sara Miccoli, Anna Myriam Perrone, Claudio Zamagni, Pierandrea De Iaco and 2 more

Abstract read
In one paragraph

Article in BMJ health & care informatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Giovanni InnellaMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.ORCID http://orcid.org/0000-0002-6909-2412
Giulia EriniDepartment of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Antonio De LeoDepartment of Experimental, Diagnostics and Specialty Medicine, University of Bologna, Bologna, Italy.
Lea GodinoMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Luca CaramannaDepartment of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Simona FerrariMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Sara MiccoliMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Anna Myriam PerroneDepartment of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Claudio ZamagniBreast and Gynecological Medical Oncology, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Pierandrea De IacoDepartment of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
Daniela TurchettiMedical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy daniela.turchetti@unibo.it.
Paola RucciDepartment of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo assess the performance of machine learning (ML) algorithms to predict the presence of germline

methodsClinical-pathological features of 648 patients with OC tested for

resultsIn the 'test' sample, boosting proved to be the most effective algorithm (accuracy: 84.5%; precision: 80.0%; recall: 3.1%; area under the curve (AUC): 78.8%), followed by support vector machine (accuracy: 81.4%; precision: 72.7%; recall: 27.6%; AUC: 62.3%) and random forest (accuracy: 74.4%; precision: 55.6%; recall: 14.7%; AUC: 71.3%). In the 'validation' sample, accuracy was 79.8% for boosting, 81.7% for support vector machine, 80.8% for random forest.In the most effective algorithm (boosting), family history of OC showed the highest relative influence (52.9), followed by histotype (19.5), personal history of breast cancer (BC) (17.1), age at diagnosis (8.4) and family history of BC (2.2), while Federation of Gynecology and Obstetrics stage had no influence. DISCUSSION: We identified the predictive algorithm that best estimates the a priori likelihood of being a carrier of germline

conclusionsResults support the selection of relevant clinical features for predictive purposes, which could have significant implications for the clinical management of patients with OC.

Indexed as

BRCA1 ProteinBRCA2 ProteinGerm-Line MutationMachine LearningOvarian NeoplasmsAdultAgedAlgorithmsFemaleGenetic Predisposition to DiseaseHumansMiddle AgedSupport Vector MachineBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanDeep LearningMachine Learning

Identifiers

PMID41475884
PMCPMC12766824

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