Cerba HealthCare Emilia-Romagna, Bologna, Italy.
Cerba HealthCare Lombardia, Milan, Italy.
Fam Cancer. 2024 Nov 20;24(1):7. doi: 10.1007/s10689-024-00426-8.
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.
在意大利北部的艾米利亚-罗马涅（Emilia-Romagna）地区，针对具有家族/遗传性乳腺癌和卵巢癌风险的女性，已制定了完善的区域协议来指导其识别和管理。在此，我们报告了一项在明确途径下为不符合区域标准的女性提供进行 BRCA1/2 检测和/或多基因检测（MGPT）的机会的经验，该经验是对公共医疗服务进行私人补充的结果。在我们中心接受 BRCA1/2 检测的 177 名患者中，有 175 名检测结果为阴性，而 2 名（1.1%）为 BRCA2 致病性变异携带者；69 名患者还接受了 MGPT，其中 4 名（5.8%）发现了致病性变异（ATM 中的 2 个，CHEK2 和 RAD51C 中的 1 个）。总体而言，这种对地区公共医疗体系的私人补充使得能够确认基因检测准入的地区标准的有效性（一致性：98.9%），但也发现了一些会逃避地区协议的 BRCA1/2 致病性变异携带者，支持 MGPT 用于识别轻度/高风险的罕见病例（非 BRCA），并为未发现致病性变异携带者的女性提供安心，她们可能会从更准确的风险评估中受益。
