ABSTRACT
BACKGROUND: Lynch syndrome is the most common cause of hereditary colorectal and endometrial cancer. Lifestyle modification may provide an opportunity for adjunctive cancer prevention. In this study, we aimed to characterise modifiable risk factors in people with Lynch syndrome and compare this with international guidelines for cancer prevention. METHODS: A cross-sectional study was carried out utilizing survey methodology. Following public and patient involvement, the survey was disseminated through patient advocacy groups and by social media. Self-reported demographic and health behaviours were collected in April 2023. Guidelines from the World Cancer Research Fund (WCRF) were used to compare percentage adherence to 9 lifestyle recommendations, including diet, physical activity, weight, and alcohol intake. Median adherence scores, as a surrogate for lifestyle risk, were calculated and compared between groups. RESULTS: 156 individuals with Lynch syndrome participated from 13 countries. The median age was 51, and 54% were cancer survivors. The mean BMI was 26.7 and the mean weekly duration of moderate to vigorous physical activity was 90 min. Median weekly consumption of ethanol was 60 g, and 3% reported current smoking. Adherence to WCRF recommendations for cancer prevention ranged from 9 to 73%, with all but one recommendation having < 50% adherence. The median adherence score was 2.5 out of 7. There was no significant association between median adherence scores and age (p = 0.27), sex (p = 0.31), or cancer history (p = 0.75). CONCLUSIONS: We have characterised the modifiable risk profile of people living with Lynch syndrome, outlining targets for intervention based on lifestyle guidelines for the general population. As evidence supporting the relevance of modifiable factors in Lynch syndrome emerges, behavioural modification may prove an impactful means of cancer prevention.
ABSTRACT
PURPOSE: Lynch Syndrome is one of the most common hereditary cancer syndromes, arising from DNA mismatch repair. Lynch Syndrome carriers are at increased lifetime risk of developing certain cancers, such as colorectal and endometrial. This increased risk can result in adverse psychological outcomes. The present qualitative study explores the experiences of individuals with Lynch Syndrome when accessing and managing healthcare in the period after learning of their Lynch Syndrome status. METHODS: Twelve interviews were conducted with Lynch Syndrome carriers in Ireland, with recruitment occurring predominantly online through closed social media platforms. This was coordinated by Lynch Syndrome Ireland, a patient representative group. Reflexive thematic analysis was used to analyse the data. There was significant Public and Patient Involvement in this study, with the committee members (N = 2) of Lynch Syndrome Ireland acting on the panel. The involvement of the PPI panel began from initial project idea conception and continued throughout the study. RESULTS: Lynch Syndrome carriers highlighted the lack of adequate information from medical professionals regarding their diagnosis. Furthermore, participants spoke of the significant lack of knowledge amongst medical professionals about Lynch Syndrome. A theme depicting guilt was also noted regarding passing Lynch Syndrome to their children, and the worry experienced when children underwent genetic testing. CONCLUSIONS: This study highlighted the experiences of having a Lynch Syndrome diagnosis and demonstrates a need for further psychological and medical support for the Lynch Syndrome community, including a clear need for improvements in genetic cancer services in this field.
