Circulating microRNA signature predicts cancer incidence in Lynch syndrome - a pilot study

Cancer Prev Res (Phila). 2024 Mar 29. doi: 10.1158/1940-6207.CAPR-23-0368. Online ahead of print.

Abstract

Lynch syndrome (LS) is the most common autosomal dominant cancer syndrome and is characterized by high genetic cancer risk modified by lifestyle factors. This study explored whether a circulating microRNA (c-miR) signature predicts LS cancer incidence within a 4-year prospective surveillance period. To gain insight how lifestyle behavior could affect LS cancer risk, we investigated whether the cancer-predicting c-miR signature correlates with known risk-reducing factors such as physical activity, body mass index (BMI), dietary fiber or non-steroidal anti-inflammatory drug usage. The study included 110 c-miR samples from LS carriers, 18 of whom were diagnosed with cancer during a 4-year prospective surveillance period. Lasso regression was utilized to find c-miRs associated with cancer risk. Individual risk sum derived from the chosen c-miRs was used to develop a model to predict LS cancer incidence. This model was validated using 5-fold cross-validation. Correlation and pathway analyses were applied to inspect biological functions of c-miRs. Pearson correlation was used to examine the associations of c-miR risk sum and lifestyle factors. Hsa-miR-10b-5p, hsa-miR-125b-5p, hsa-miR-200a-3p, hsa-miR-3613-5p and hsa-miR-3615 were identified as cancer predictors by Lasso, and their risk sum score associated with higher likelihood of cancer incidence (HR 2.72, 95% CI 1.64-4.52, C-index=0.72). In cross-validation, the model indicated good concordance with the average C-index of 0.75 (0.6-1.0). Co-regulated hsa-miR-10b-5p, hsa-miR-125b-5p and hsa-miR-200a-3p targeted genes involved in cancer-associated biological pathways. The c-miR risk sum score correlated with BMI (r=0.23, p<0.01). In summary, BMI-associated c-miRs predict LS cancer incidence within four years, although further validation is required.