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 |
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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. |
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ISSN: | 1389-9600 1573-7292 1573-7292 |
DOI: | 10.1007/s10689-024-00426-8 |