RAD51基因突变的首诊卵巢癌患者真实患病体验质性研究

A qualitative study on the real experience of ovarian cancer patients with RAD51 gene mutation

目的:了解DNA重组修复基因(RAD51)突变的首诊卵巢癌(OC)患者真实患病体验,为后续制定干预措施提供理论依据.方法:采用目的抽样的方法抽取2022年1-12月在北京市某三级甲等医院妇科收治的RAD51基因突变、未开展治疗的OC患者作为研究对象,采用现象学方法进行半结构化访谈并现场录音,应用Colaizzi现象学7步分析法对访谈资料进行分析、提炼主题.结果:本研究归纳提炼出3个主题,即积极与消极并存、希望专业指导和行为观念转变.RAD51基因突变OC患者存在明显的负性情绪,也有积极心态养成的趋势,存在自我行为观念转变,有意愿监督易感亲属行为,对OC的认知程度较低,希望得到专业指导.结论:RAD51基因突变OC患者存在负性情绪及认知不足的情况,医护人员应及时关注RAD51基因突变OC患者的负性情绪,促进其积极心态的养成,纠正患者的不良认知.医疗机构应尽早构建OC基因检测咨询体系,为患者提供专业基因检测后续指导.

Objective:To understand the real disease experience of ovarian canccr(OC)patients with restriction association site DNA 51(RAD51.)mutation,and to provide theoretical basis for the follow-up development of the corresponding intervention measures of the patients.Methods:Objective sampling method was used to select the ovarian cancer patients with RAD51 gene mutation and without treatment from the department of gynecology in a third-class hospital in Beijing from January 2022 to December 2022 as the research object.The semi-structured interview was conducted with the method of phenomenology,and the on-site recording was made.The interview data were analyzed with the method of Colaizzi phenomenology 7-stcp analysis to extract the theme.Results:This study summarized and extracted three themes,including the positive and negative emotion coexist,the hope for professional guidance and the change of behavior concept.OC patients with RAD51 gene mutation had obvious negative emotions,but also had a tendency to develop a positive mental attitude.There was a change in the concept of self behavior of the patients.The patients were willing to supervise the behavior of susceptible relatives.The patients had low level of recognition of OC and had hoped to receive professional guidance.Conclusions The OC patients with RAD51 gene mutation have negative emotions and insufficient cognition,so,medical staff should pay attention to their negative emotions in time,promote their positive mental attitude and correct their bad cognition.Medical institutions should establish the OC genetic testing consultation system as soon as possible to provide the follow-up guidance for the patients after the professional genetic testing.