Psychological Burden and Preferences in CDH1 Mutation Carriers: Beyond the Cancer Diagnosis

Abstract

CDH1 gene mutation carriers have to deal with a significant emotional burden associated with the increased risk of developing invasive and aggressive cancer, difficulties in managing the uncertainty related to the genetic testing information, and challenging preference-sensitive decisions about risk-reducing measures might potentially affect all life trajectories. Evidence collected in this domain have stated that identifying a cancer mutation might be a disruptive event in the lives of the mutation carriers. Having a cancer mutation does not mean an increased risk for themselves, but also for their relatives who might have inherited it. Considering the complexity of the cancer mutations, it is mandatory to introduce into clinical practice tailored psychological consultation for mutation carriers and their families to help them with challenges and uncertainties connected with their condition. Here we will explore three key themes: (1) patients’ experiences of uncertainty, emotional responses, and burden in CDH1 carrier’s trajectory; (2) psycho-cognitive mechanisms behind the preferences’ constructions in mutation carriers throughout the care pathway; and finally, (3) role of the psychological consultation for mutation carriers and their family and decision aids in clinical practice.