Onkológia 6/2017

Diagnostics of patients of Lynch Syndrome

Aim: This paper describes the possibilities of genetic testing in Slovak patients with suspected Lynch syndrome at our workplace. Material and methods: The DNA of patients diagnosed with colorectal cancer was assessed for MSI, and in selected cases for the presence of MMR germline mutations. Results: A total of 771 patients with colorectal tumors were tested for MSI status and the MSI positive status (MSI-H or MSI-L) was identified in 104 of them. Subsequently, 266 patients were tested for germline mutations in MMR genes (MLH1, MSH2, MSH6, PMS2), and a germline mutation was identified in 31 of them. Conclusion: Genetic screening of patients with Lynch syndrome leads to improvements in health outcomes among MMR gene mutation carriers and members of their family. Clinicians now have a simple and accessible means of determining if an individual is a carrier of Lynch syndrome-associated genetic mutations.

Keywords: colorectal cancer, inheritance, hereditary non-polyposis colon cancer (Lynch syndrome), DNA, mutations, mismatch repair genes (MMR)