Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies.

IF 3.4 2区 医学 Q2 ONCOLOGY BMC Cancer Pub Date : 2025-01-23 DOI:10.1186/s12885-025-13521-5
Giulia Mammone, Simona Borghesi, Nicolò Borsellino, Anna Caliò, Roberta Ceccarelli, Alessia Cimadamore, Giario Natale Conti, Laura Cortesi, Rolando Maria D'Angelillo, Gaetano Facchini, Lorena Incorvaia, Alberto Lapini, Luigi Mearini, Giovanni Pappagallo, Paolo Prontera, Daniela Turchetti, Grazia Sirgiovanni, Sergio Bracarda
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Abstract

Prostate cancer (PCa) ranks among the most prevalent malignancies in men, with notable associations to Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch Syndrome, both linked to germline likely pathogenetic variant/pathogenetic variant (LPV/PV) in genes involved in DNA repair. Among these genes, BRCA2 in PCa patients is the most frequently altered. Despite progresses, challenges in BRCA carriers detection persist, with a quarter of PCa cases lacking family history.To address these challenges, a multidisciplinary expert panel from six Italian Scientific Societies, formulated a care pathway to integrate BRCA testing into routine clinical practice in different Italian geographical areas.The development process, promoted by the Italian Society of Uro-Oncology (SIUrO), involved three key stages. A preliminary meeting convened teams from different Italian regions to establish minimal requirements for a mini-counseling program (defined as a pre-test consultation carried out by clinicians responsible of patients' management) and propose care pathway models. At the same time, a comprehensive survey was launched to highlight regional variations in BRCA testing and identify eventual obstacles to testing activities. A subsequent meeting synthesized care pathway proposals and formulated a unified framework, acknowledging regional legislative variations as enriching factors. Lastly, implementation of the unified framework was promoted by the project faculty and identified regional team leaders.Survey results revealed significant regional disparities in BRCA testing, reimbursement policies, and access to genetic counseling. The proposed mini-counseling program outlined essential steps for patient identification, information provision, and multidisciplinary review, aiming to streamline BRCA testing processes.Expert recommendations emphasized offering tumor genetic testing to metastatic PCa patients eligible for PARP-i treatment and outlined criteria for genetic counseling and germline testing. Key considerations included family history and tumor characteristics.In conclusion, the proposed care pathway represents a critical step towards integrating BRCA testing into routine PCa care, aiming to optimize patient management and familial risk assessment within the constraints of the Italian healthcare system.

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将BRCA检测纳入常规前列腺癌治疗:SIUrO和其他意大利科学协会的多学科方法。
前列腺癌(PCa)是男性中最常见的恶性肿瘤之一,与遗传性乳腺癌和卵巢癌综合征(HBOC)和Lynch综合征有显著相关性,两者都与参与DNA修复的基因中的种系可能致病变异/致病变异(LPV/PV)有关。在这些基因中,PCa患者的BRCA2是最常改变的。尽管取得了进展,但BRCA携带者检测的挑战仍然存在,四分之一的PCa病例缺乏家族史。为了应对这些挑战,一个来自意大利六个科学学会的多学科专家小组制定了一个护理途径,将BRCA检测纳入意大利不同地理区域的常规临床实践。由意大利泌尿肿瘤学会(SIUrO)推动的开发过程包括三个关键阶段。初步会议召集了来自意大利不同地区的团队,确定了小型咨询项目的最低要求(定义为由负责患者管理的临床医生进行的测试前咨询),并提出了护理途径模型。与此同时,开展了一项全面调查,以突出BRCA检测的区域差异,并确定检测活动的最终障碍。随后的会议综合了护理路径建议,并制定了统一的框架,承认区域立法差异是丰富因素。最后,统一框架的实施由项目教师和确定的区域团队负责人推动。调查结果显示,在BRCA检测、报销政策和获得遗传咨询方面存在显著的地区差异。拟议的小型咨询计划概述了患者识别、信息提供和多学科审查的基本步骤,旨在简化BRCA检测过程。专家建议强调为有资格接受PARP-i治疗的转移性PCa患者提供肿瘤基因检测,并概述了遗传咨询和种系检测的标准。主要考虑因素包括家族史和肿瘤特征。总之,拟议的护理途径是将BRCA检测整合到常规PCa护理中的关键一步,旨在优化意大利医疗保健系统约束下的患者管理和家族风险评估。
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来源期刊
BMC Cancer
BMC Cancer 医学-肿瘤学
CiteScore
6.00
自引率
2.60%
发文量
1204
审稿时长
6.8 months
期刊介绍: BMC Cancer is an open access, peer-reviewed journal that considers articles on all aspects of cancer research, including the pathophysiology, prevention, diagnosis and treatment of cancers. The journal welcomes submissions concerning molecular and cellular biology, genetics, epidemiology, and clinical trials.
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