Evidence map›Paper›PMID 39984762›Full record

ArticleMolecular biology reports2025

Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.

Daniele Guadagnolo, Angelo Minucci, Antonella Chiavassa, Gabriella Gentile, Francesca Salvatori, Nader Khaleghi Hashemian, Giulia Maneri, Maria Piane, Simona Grotta, Paola Grammatico and 3 more

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Article in Molecular biology reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Daniele Guadagnolo *Department of Experimental Medicine, School of Medicine and Dentistry, Sapienza University of Rome, 00185, Rome, Italy.
Angelo Minucci *Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, Rome, Italy.
Antonella ChiavassaDepartment of Radiological, Oncological and Pathological Science, School of Medicine and Dentistry, Sapienza University of Rome, 00161, Rome, Italy.
Gabriella GentileDepartment of Radiological, Oncological and Pathological Science, School of Medicine and Dentistry, Sapienza University of Rome, 00161, Rome, Italy.
Francesca SalvatoriDepartment of Radiological, Oncological and Pathological Science, School of Medicine and Dentistry, Sapienza University of Rome, 00161, Rome, Italy.
Nader Khaleghi HashemianDepartment of Experimental Medicine, School of Medicine and Dentistry, Sapienza University of Rome, 00185, Rome, Italy.
Giulia ManeriDepartmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, Rome, Italy.
Maria PianeSant 'Andrea University Hospital, 00189, Rome, Italy.
Simona GrottaLaboratory of Medical Genetics, San Camillo-Forlanini Hospital, 00152, Rome, Italy.
Paola GrammaticoLaboratory of Medical Genetics, San Camillo-Forlanini Hospital, 00152, Rome, Italy.
Antonio PizzutiDepartment of Experimental Medicine, School of Medicine and Dentistry, Sapienza University of Rome, 00185, Rome, Italy.
Daniele SantiniDepartment of Radiological, Oncological and Pathological Science, School of Medicine and Dentistry, Sapienza University of Rome, 00161, Rome, Italy.
Laura De MarchisDepartment of Radiological, Oncological and Pathological Science, School of Medicine and Dentistry, Sapienza University of Rome, 00161, Rome, Italy. laura.demarchis@uniroma1.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundOvarian Cancer (OC) prevention and early-stage detection represents a challenge due to the lack of effective surveillance. The identification of high-risk women is crucial as it provides access to prophylactic oophorectomy and reduces disease burden. Next-Generation Sequencing approaches enable the investigation of several genes associated with monogenic hereditary cancer predisposition, including ovarian cancer. For family members of patients affected by ovarian cancer without identification of a germline pathogenic variant, despite the increased empirical risk (3 times) of ovarian cancer incidence, prophylactic surgery is not indicated but may be suggested as the only efficient strategy. METHODS AND

resultsWe hereby present 2 cases of OC in which a germline heterozygous pathogenic variant in the ATM gene was identified: the first in the contest of Hereditary Breast and Ovarian Cancer (HBOC) family history and, in the other one, a late onset of neoplasms, to underline the importance of defining guidelines and management of moderate penetrance genes variants also for ovarian cancer prevention.

conclusionsCarriers of heterozygous pathogenic variants in the ATM gene have an increased risk of neoplasms incidence, mostly breast but also of OC with an absolute estimated risk of 2-3 times greater than the general population. For these patients there is not well-established evidence of benefit in risk reducing bilateral Salpingo-oophorectomy.

Indexed as

Ataxia Telangiectasia Mutated ProteinsGerm-Line MutationOvarian NeoplasmsBRCA1 ProteinBRCA2 ProteinFemaleGenetic Predisposition to DiseaseHeterozygoteHumansPedigreeAtaxia Telangiectasia Mutated ProteinsATM protein, humanBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanATMCancer preventionHereditary Breast and Ovarian CancerModerate penetrance genesOvarian cancerRisk-Reducing Bilateral Salpingo-oophorectomy

Identifiers

PMID39984762
PMCPMC11845405

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