Tsukanov, A., Demidova, I., Tsaur, G., Druy, A., Olshanskaya, Y., Kekeyeva, T., Filipenko, M., & Imyanitov, E. (2023). Diagnosis of Lynch syndrome in cancer patients: the position of the Interregional organization of molecular geneticists in Oncology and Oncohematology. Voprosy Onkologii, 69(1), 7–14. https://doi.org/10.37469/0507-3758-2023-69-1-7-14

Abstract

Lynch syndrome is one of the most common hereditary cancer syndromes, caused by pathogenic germline variants in the MLH1, MSH2, MSH6, PMS2 or EPCAM genes. The most common types of the disease are carcinomas of the colon and/or endometrium, although, less frequently, malignant lesions can develop in a range of organs. In routine clinical practice, colorectal cancer patients make up the majority of patients referred for diagnosis of Lynch syndrome. Their main clinical features are a young age and/or a family history of cancer. Lynch syndrome-associated tumors are characterized by microsatellite instability (MSI). MSI screening is used as a patient selection criterion and can be performed either by polymerase chain reaction (PCR) or by immunohistochemical analysis (IHC). If microsatellite instability is detected, the DNA obtained from the patient's lymphocytes is subjected to nucleotide sequence analysis of the genes listed above. In case Lynch syndrome is diagnosed, the treatment of the cancer patient can be considerably modified. Early diagnosis of cancer in healthy Lynch syndrome pathogenic variant carriers is extremely clinically effective.

https://doi.org/10.37469/0507-3758-2023-69-1-7-14

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