Lynch syndrome diagnostics

In frame of the Mathematics in Oncology collaborative initiative, we systematically analyzed data from published studies, public databases and population-based patient cohorts in order to perform cost and efficiency analyses of BRAF mutation testing in Lynch syndrome diagnostics. We concluded that BRAF mutation testing led to a high risk of missing Lynch syndrome individuals and increased costs at age younger than 50 years. We therefore suggest to directly refer MSI CRC patients younger than 50 years to genetic counseling without BRAF testing. The study was recently published in the International Journal of Cancer. We have published a blog post on EMCL News.