Mutation Carriers' Perspectives on Lynch Syndrome; self-concept and lived experiences

Abstract: Lynch syndrome is a hereditary cancer syndrome that predisposes to several types of cancer, including colorectal cancer, endometrial cancer and ovarian cancer. Genetic testing for Lynch syndrome has been available since the mid-1990’s, which implies that an increasing number of individuals live with knowledge of a high risk of cancer. Most individuals affected by Lynch syndrome experience increased levels of e.g. anxiety and distress after having learnt about a disease-predisposing mutation. In the majority of the individuals, the scores return to normal within 12 months. A smaller subset reports remaining high scores, which may indicate a need for psychosocial support. Global measures of may have a limited possibility to capture the psychological and social issues specifically associated with genetic testing and life at increased risk of cancer. This motivates our evaluation and application of more specific instruments related to the psychological impact from Lynch syndrome and our study of perspectives among healthy individuals at increased risk.In study I, we evaluated the structure of the Lynch syndrome self-concept scale and its performance in three Lynch syndrome populations. The findings support the basic structure of the scale and its applicability in western populations.Study II provides the first extended use of the Lynch syndrome self-concept scale through data collection from the entire Danish Lynch syndrome cohort. The results suggest that mutation carriers adapt well to the situation, though a subset reports adverse scores with a higher impact on self-concept. In study III, sense of coherence (SOC) was assessed in individuals with Lynch syndrome and the data were correlated to self-concept. SOC scores in mutation carriers were similar to those in a general population. In the majority (76%), SOC and self-concept were in accordance. Discrepant subsets were identified, which likely reflects different aspects of finding life at increased risk difficult. Adverse scores on both scales, i.e. a low SOC and a high impact on self-concept, were reported by 10% of the individuals. In study IV, the lived experiences among healthy mutation carriers in Lynch syndrome families were explored. The findings suggest that living with a high risk of cancer constitutes an act of balance, in which personal interpretation and family experiences combined with knowledge, contribute to how the individuals approach life at increased risk of cancer.