Germline Testing for Lynch Syndrome: More Important Than Ever
B Cote, Onc Nursing News, October 2020
B Cote, Onc Nursing News, October 2020
With the emergence of several targeted treatments that have shown efficacy in individuals with germline pathogenic variants, specifically in DNA mismatch repair, the need for germline genetic testing has become even more pronounced.
Diagnostics of Mutations in MMR/EPCAM Genes and Their Role in the Treatment and Care of Patients with Lynch Syndrome
J Sobocinka et al, MDPI Diagnostics, October 2020
J Sobocinka et al, MDPI Diagnostics, October 2020
In this review, the mutations involved with LS and their diagnostic methods are described and compared, as are their current uses in clinical decision making. LS diagnosis is based on a review of family medical history, and when necessary, microsatellite instability (MSI) or/and immunohistochemistry (IHC) analyses. In the case of a lack of MMR protein expression (dMMR) or MSI-H (MSI-High) detection in tumor tissue, molecular genetic testing can be undertaken.
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