Persson Eva, Lindholm Elisabet, Berndtsson Ina, Lundstam Ulf, Hultén Leif, Carlsson Eva
School of Health Sciences, University of Borås, Borås, Sweden.
Scand J Caring Sci. 2012 Mar;26(1):20-7. doi: 10.1111/j.1471-6712.2011.00898.x. Epub 2011 May 20.
In most families with familial cancers, mutations have not been demonstrated; thus, healthy individuals cannot be tested for mutation status. As a consequence, many persons at risk of familial cancer live with an unknown, but presumably high, risk of developing cancer.
The aim of this study was to describe individuals' perceptions of living with an increased risk of colorectal and gynaecologic cancer where the gene mutation is unknown.
Interviews were conducted with 30 individuals with familial colorectal cancer. These persons have no known mutation and therefore should be considered presumptive carriers. In connection with the interviews, all participants were offered to take part in a surveillance programme consisting of a colonoscopy and gynaecological examinations. The interview transcriptions were analysed by the use of qualitative content analysis.
Two themes emerged from the analyses: first, living under a threat with two subthemes, threat awareness and distancing oneself from the threat. The second theme, living with uncertainty, was divided into four subthemes: influencing one's family, being on the safe side, facing emotions evoked by examinations and trust and disappointment to the medical services.
These persons live with a lifelong uncertainty with a varying intensity depending on what happens throughout the life trajectory. They have no diagnosis or patient group to relate to; therefore, the entire situation is often perceived as abstract. Thus, providing information and counselling needs to be more deeply elucidated, and we need to address both situational and existential ways of uncertainty. This will, however, require professionals of all disciplines to understand the meaning of uncertainty and help ensure that its adverse effects are decreased with adequate nursing interventions.
在大多数患有遗传性癌症的家庭中，尚未证实存在基因突变；因此，无法对健康个体进行基因突变状态检测。结果，许多有遗传性癌症风险的人生活在患癌风险未知但可能很高的状态下。
本研究的目的是描述个体对于在基因突变未知的情况下，患结直肠癌和妇科癌症风险增加的生活感受。
对30名患有家族性结直肠癌的个体进行了访谈。这些人没有已知的基因突变，因此应被视为推定携带者。在访谈过程中，所有参与者都被邀请参加一个由结肠镜检查和妇科检查组成的监测项目。通过定性内容分析对访谈记录进行了分析。
分析得出两个主题：第一，生活在威胁之下，包括两个子主题，威胁意识和与威胁保持距离。第二个主题，生活在不确定性之中，分为四个子主题：影响家庭、以防万一、面对检查引发的情绪以及对医疗服务的信任与失望。
这些人一生都生活在不确定性之中，其强度因人生轨迹中发生的事情而异。他们没有相关诊断或患者群体可以参照；因此，整个情况往往被视为抽象的。因此，提供信息和咨询需要更深入地阐明，我们需要解决不确定性的情境和生存方式问题。然而，这将需要所有学科的专业人员理解不确定性的含义，并帮助确保通过适当的护理干预减少其不利影响。
