Wevers Marijke R, Ausems Margreet G E M, Verhoef Senno, Bleiker Eveline M A, Hahn Daniela E E, Brouwer Titia, Hogervorst Frans B L, van der Luijt Rob B, van Dalen Thijs, Theunissen Evert B, van Ooijen Bart, de Roos Marnix A, Borgstein Paul J, Vrouenraets Bart C, Vriens Eline, Bouma Wim H, Rijna Herman, Vente Johannes P, Kieffer Jacobien M, Valdimarsdottir Heiddis B, Rutgers Emiel J Th, Witkamp Arjen J, Aaronson Neil K
Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Division of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Genet Med. 2016 Feb;18(2):137-44. doi: 10.1038/gim.2015.50. Epub 2015 Apr 23.
Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast cancer. Rapid genetic counseling and testing (RGCT) before surgery may influence choice of primary surgical treatment. In this article, we report on the psychosocial impact of RGCT.
Newly diagnosed breast cancer patients at risk for carrying a BRCA1/2 mutation were randomized to an intervention group (offer of RGCT) or a usual care control group (ratio 2:1). Psychosocial impact and quality of life were assessed with the Impact of Events Scale, Hospital Anxiety and Depression Scale, Cancer Worry Scale, and the EORTC QLQ-C30 and QLQ-BR23. Assessments took place at study entry and at 6- and 12-month follow-up visits.
Between 2008 and 2010, 265 patients were recruited into the study. Completeness of follow-up data was more than 90%. Of the 178 women in the intervention group, 177 had genetic counseling, of whom 71 (40%) had rapid DNA testing and 59 (33%) received test results before surgery. Intention-to-treat and per-protocol analyses showed no statistically significant differences between groups over time in any of the psychosocial outcomes.
In this study, RGCT in newly diagnosed breast cancer patients did not have any measurable adverse psychosocial effects.
携带BRCA1/2突变的女性乳腺癌患者患第二原发性乳腺癌的风险增加。术前快速基因咨询与检测（RGCT）可能会影响原发性手术治疗的选择。在本文中，我们报告了RGCT的社会心理影响。
将新诊断的有携带BRCA1/2突变风险的乳腺癌患者随机分为干预组（提供RGCT）或常规护理对照组（比例为2:1）。使用事件影响量表、医院焦虑与抑郁量表、癌症担忧量表以及欧洲癌症研究与治疗组织的QLQ-C30和QLQ-BR23对社会心理影响和生活质量进行评估。在研究开始时以及6个月和12个月的随访时进行评估。
2008年至2010年期间，265名患者被纳入研究。随访数据的完整性超过90%。干预组的178名女性中，177人接受了基因咨询，其中71人（40%）进行了快速DNA检测，59人（33%）在手术前收到了检测结果。意向性分析和符合方案分析显示，随着时间的推移，两组在任何社会心理结果方面均无统计学上的显著差异。
在本研究中，新诊断乳腺癌患者的RGCT没有任何可测量的不良社会心理影响。
