中国乳腺癌患者接受BRCA1/2基因检测后的生活质量与心理状态

　　2016年7月18日，美国《公共科学图书馆·综合》发表复旦大学附属肿瘤医院和上海医学院（胡震、邵志敏、沈镇宙、韩企夏、侯意枫、陈灿铭、狄根红、柳光宇、吴炅、杨晓晨、管佳琴、裘佳佳）的研究报告，分析了接受BRCA1/2基因检测的中国乳腺癌患者的生活质量与心理状态。

　　该研究采用定量与定性相结合的设计，研究对象来自《通过新一代测序确定一个中国人群家族性乳腺癌遗传因素的综合体系》。首先，使用癌症治疗功能评定-乳腺癌（FACT-B）中国版和烦躁-抑郁-焦虑量表（IDA）定量分析接受BRCA1/2基因检测的99位乳腺癌患者，评估生活质量和心理状态。然后，在医院内对13位突变携带者进行半结构化深入定性访谈。

　　定量研究结果表明患者的生活质量评分相对较高、IDA评分相对较低，非携带者与携带者的生活质量或IDA评分无显著差异。根据定性分析，发现主要有四种情形演变：（1）寻找患乳腺癌的原因；（2）消极情绪；（3）行为改变；（4）信息缺乏。

　　该研究表明，接受基因检测的乳腺癌患者生活质量和心理状态良好，基因检测本身不会造成长期心理影响。BRCA1/2突变携带者在知道检测结果初期可能有一定的消极情绪，并可能引发行为和生活方式的改变。中国大陆BRCA1/2突变患者渴望有关基因方面的知识。提供专业的信息和建议，可以减轻患者被告知基因缺陷时的消极情绪。

PLoS One. 2016 Jul 18;11(7):e0158531.

Quality of Life and Psychological State in Chinese Breast Cancer Patients Who Received BRCA1/2 Genetic Testing.

Qiu J, Guan J, Yang X, Wu J, Liu G, Di G, Chen C, Hou Y, Han Q, Shen Z, Shao Z, Hu Z.

Shanghai Cancer Center, Fudan University, Shanghai, China; Shanghai Medical College, Fudan University, Shanghai, China.

BACKGROUND: This study aims to understand the quality of life (QOL) and psychological state (PS) of Chinese breast cancer patients who received BRCA1/2 genetic testing; to examine the psychological changes between BRCA1/2 mutation carriers and non-carriers; and to further explore the psychological experience of BRCA1/2 mutation carriers.

METHODS: This study was combined with quantitative and qualitative designs. First, we performed a quantitative investigation using FACT-B (Chinese version) and Irritability, Depression and Anxiety scale (IDA) to assess the QOL and PS in breast cancer patients who received BRCA1/2 genetic testing. Then semi-structured in-depth qualitative interviews among 13 mutation carriers were conducted in hospital.

RESULTS: Results from the quantitative study showed QOL scores were relatively high and the IDA scores were relatively low among the patients, and there was no significant difference in the QOL or IDA scores between non-carriers and carriers. Based on the qualitative analysis, four main themes emerged: (1) Finding the reason for having breast cancer; (2) Negative emotions; (3) Behavioral changes; (4) Lack of information.

CONCLUSIONS: The present study showed that QOL and PS are good among the breast cancer patients who received genetic testing. Genetic testing itself does not cause long psychosocial effects. BRCA1/2 mutation carriers may have certain negative emotions at the first stage they knew the testing results and may initiate behavioral and lifestyle changes. The patients with a BRCA1/2 mutation desire knowledge with regard to genetic aspects in mainland China. Professional information and advice can be provided to relieve the patients' negative emotions when they were informed of gene defect.

PMID: 27428375

DOI: 10.1371/journal.pone.0158531