Hereditary breast and ovarian cancer genetic testing in unselected patients: example of private supplementation of public healthcare service

In the Emilia-Romagna region (Northern Italy), the identification and management of women at familial/hereditary risk of breast and ovarian cancer is guided by a well-established regional protocol. Here we report the results of the experience of private supplementation of public healthcare service i...

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Veröffentlicht in:Familial cancer 2025-03, Vol.24 (1), p.7, Article 7
Hauptverfasser: Fiorentino, Francesca, Innella, Giovanni, Balducci, Federica, Marullo, Laura, Lanzoni, Giulia, Miccoli, Sara, Cardarelli, Laura, Turchetti, Daniela, Tempesta, Sergio
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Sprache:eng
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Zusammenfassung:In the Emilia-Romagna region (Northern Italy), the identification and management of women at familial/hereditary risk of breast and ovarian cancer is guided by a well-established regional protocol. Here we report the results of the experience of private supplementation of public healthcare service in offering the possibility to undergo BRCA1/2 testing and/or multigene panel testing (MGPT) within a well-defined pathway to women unfulfilling regional criteria. Out of 177 patients referred to our center who underwent BRCA1/2 testing, 175 tested negative while two (1.1%) resulted carriers of pathogenic variants in BRCA2 ; 69 patients also underwent MGPT, and in four cases (5.8%) a pathogenic variant were found (two in ATM and one in CHEK2 and RAD51C , respectively). Overall, this private supplementation of territorial public healthcare system has made it possible to confirm the validity of regional criteria for genetic testing access (concordance: 98.9%), but also to identify carriers of pathogenic variants of BRCA1/2 that would have escaped regional protocol, to support the effectiveness of MGPT for the identification of rare cases (not BRCA ) at mild/high risk, and to provide reassurance to women who were found to be non-carriers of pathogenic variants, who may benefit from a more accurate assessment of their risk.
ISSN:1389-9600
1573-7292
1573-7292
DOI:10.1007/s10689-024-00426-8