Living at genetic risk: The patient experience of Lynch syndrome

Le résumé fourni par la source

Lynch syndrome is a germline cancer predisposition syndrome caused by a variant in one of four genes. Lynch syndrome places individuals at significantly higher risk for a range of cancers, especially colorectal and endometrial. Depending on which gene is affected, the risk of ovarian, gastric, small bowel, pancreatic, biliary urothelial, brain, and certain skin tumors is also increased. Tailored treatment, cancer surveillance, and consideration of primary prevention measures are critical for at-risk individuals. Despite advancements in genetic testing, Lynch syndrome remains underdiagnosed, with only a small proportion of those affected aware of their genetic predisposition. This article explores the patient experience of living with Lynch syndrome, focusing on the challenges surrounding diagnosis, risk-adjusted prevention, healthcare coordination, and information dissemination. Stages of the patient journey are explored, from awareness and suspicion to diagnosis, treatment and surveillance, psychosocial adaptation, and ongoing management. The need for more comprehensive healthcare strategies and better communication to enhance the quality of care for Lynch syndrome patients is emphasized. We recommend improvements to better meet patient needs.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.