Implementing mainstream germline genetic testing in breast cancer across Europe.

Eduard Pérez-Ballestero, Sagal Ahmed Shire, Mateja Krajc, Arvīds Irmejs, Lenka Foretová, Sophie Frank, Tiina Kahre, Thomas van Overeem Hansen, Linetta Koppert, Anna Lena Burgemeister, Marc Tischkowitz, Judith Balmaña, Svetlana Bajalica-Lagercrantz
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Abstract

The implementation of mainstream germline genetic testing in breast cancer patients has both benefits and challenges. Multiple aspects need to be considered for the outline of gene panels and the amount of pre-test genetic counselling. Mainstream genetic testing is mainly performed to stratify patients for targeted treatment. In addition, identification of germline pathogenic variants in cancer risk genes may have surgical implications, consequences for surveillance of other organs at risk of cancer, as well as family implications among relatives at risk. To ensure that patients are well informed, the introduction of mainstream genetic testing performed by non-genetic health care specialists requires an adapted pre-test counselling visit. Here, we review the literature and propose a web-based educational session and pocket guide to support implementation of mainstream testing in oncology practice.

Abstract Image

Abstract Image

在整个欧洲对乳腺癌实施主流生殖系基因检测。
在乳腺癌患者中实施主流生殖系基因检测既有好处也有挑战。基因小组的大纲和测试前遗传咨询的数量需要考虑多个方面。主流基因检测主要用于对患者进行分层,以便进行针对性治疗。此外,癌症风险基因的种系致病变异的鉴定可能具有外科意义,对其他有癌症风险的器官的监测结果,以及有风险亲属之间的家庭意义。为了确保患者充分了解情况,采用由非遗传保健专家进行的主流基因检测,需要进行适当的检测前咨询访问。在这里,我们回顾了文献,并提出了一个基于网络的教育会议和袖珍指南,以支持在肿瘤学实践中实施主流测试。
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