Meiser Bettina, Tucker Kathy, Friedlander Michael, Barlow-Stewart Kristine, Lobb Elizabeth, Saunders Christobel, Mitchell Gillian
Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW 2031, Australia.
Breast Cancer Res. 2008;10(6):216. doi: 10.1186/bcr2194. Epub 2008 Nov 28.
Many women newly diagnosed with breast cancer and with a strong family history of breast cancer are referred to a family cancer service for genetic counselling and for consideration of genetic testing for germline mutations in cancer predisposition genes following completion of their cancer treatment. However, there is growing evidence that mutation status may influence treatment recommendations, and that there may be benefits in having 'treatment-focused genetic counselling and testing' available shortly after cancer diagnosis. This article reviews the literature that could inform the development of treatment-focused genetic counselling and testing, including: the rationale for genetic testing to aid with treatment decisions; the potential benefits of using mutation or risk status to tailor management; the criteria that may be used to identify patients most likely to carry germline mutations; and the evidence regarding women's decision-making regarding treatment-focused genetic counselling and testing and the associated psychological impact.
许多新诊断出患有乳腺癌且有乳腺癌家族病史的女性，在完成癌症治疗后，会被转介到家庭癌症服务机构进行遗传咨询，并考虑对癌症易感基因中的种系突变进行基因检测。然而，越来越多的证据表明，突变状态可能会影响治疗建议，而且在癌症诊断后不久提供“以治疗为重点的遗传咨询和检测”可能会带来益处。本文回顾了可为以治疗为重点的遗传咨询和检测的发展提供参考的文献，包括：进行基因检测以辅助治疗决策的基本原理；利用突变或风险状态来调整治疗方案的潜在益处；可用于识别最有可能携带种系突变的患者的标准；以及关于女性对以治疗为重点的遗传咨询和检测的决策及相关心理影响的证据。
