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Experiences of living with increased risk of developing colorectal and gynaecological cancer in individuals with no identified gene mutation.

Journal article
Authors Eva Persson
Elisabet Lindholm
Ina Berndtsson
Ulf Lundstam
Leif Hultén
Eva Carlsson
Published in Scandinavian journal of caring sciences
Volume 26
Issue 1
Pages 20–27
ISSN 1471-6712
Publication year 2012
Published at Institute of Clinical Sciences, Department of Surgery
Institute of Health and Care Sciences
Institute of Clinical Sciences
Pages 20–27
Language en
Keywords cancer; lived experience; genetics
Subject categories Health Sciences


Scand J Caring Sci; 2011 Experiences of living with increased risk of developing colorectal and gynaecological cancer in individuals with no identified gene mutation Background:  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. Aim:  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. Methods:  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. Results:  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. Conclusion:  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.

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