Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene
Carriers 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.
Authors
- Laura De Marchis (ORCID: https://orcid.org/0000-0003-2195-7955)
- Nader Khaleghi Hashemian (ORCID: https://orcid.org/0000-0002-4351-8622)
- Simona Grotta
- Antonella Chiavassa
- Maria Piane (ORCID: https://orcid.org/0000-0001-8569-247X)
- Paola Grammatico (ORCID: https://orcid.org/0000-0002-6864-2574)
- Angelo Minucci (ORCID: https://orcid.org/0000-0002-0833-4334)
- Giulia Maneri (ORCID: https://orcid.org/0000-0002-6455-8973)
- Gabriella Gentile (ORCID: https://orcid.org/0009-0008-2714-2769)
- Daniele Guadagnolo (ORCID: https://orcid.org/0000-0003-4588-1131)
- Antonio Pizzuti (ORCID: https://orcid.org/0000-0003-3245-1925)
- Francesca Salvatori (ORCID: https://orcid.org/0000-0001-8950-9978)
- Daniele Santini (ORCID: https://orcid.org/0000-0002-9118-3337)
Institutions
- Policlinico Umberto I (IT)
- Agostino Gemelli University Polyclinic (IT)
- Azienda Ospedaliera Sant'Andrea (IT)
- Carlo Forlanini Hospital (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Molecular Biology Reports
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1007/s11033-025-10357-x
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00