Liquid biopsy in hereditary cancer predisposition Implications for patients with Lynch syndrome

Patients with hereditary tumor predisposition syndromes have a significantly increased risk of developing tumors and frequently develop the disease even in young adulthood. These patients therefore require intensified monitoring in order to detect and treat tumors at an early stage. Accordingly, regular colonoscopy is recommended for screening in patients with Lynch syndrome, the most common hereditary predisposition for colorectal cancer. A liquid biopsy enables the noninvasive or minimally invasive analysis of circulating tumor markers. In particular, the analysis of circulating tumor DNA (ctDNA) is already used in treatment guidance of tumor patients and furthermore enables the detection of minimal residual disease or recurrence. Advances in the field of the highly sensitive untargeted detection of ctDNA are promising for the early detection in patients with a hereditary cancer predisposition. Regarding early tumor detection, these analytical methods still need to be improved and the specificity and sensitivity evaluated in clinical trials. Detection of precursor lesions, such as advanced adenomas to prevent malignant tumors or to enable treatment as early as possible, is particularly challenging.