Article
Biallelic MUTYH mutations can mimic Lynch syndrome.
European journal of human genetics : EJHG - 1 Nov 2014
Morak Monika, Heidenreich Barbara, Keller Gisela, Hampel Heather, Laner Andreas, de la Chapelle Albert, Holinski-Feder Elke
Abstract excerpt
The hallmarks of Lynch syndrome (LS) include a positive family history of colorectal cancer (CRC), germline mutations in the DNA mismatch repair (MMR) genes, tumours with high microsatellite instability (MSI-H) and loss of MMR protein expression. However, in ∼10-15% of clinically suspected LS cases, MMR mutation analyses cannot explain MSI-H and abnormal immunohistochemistry (IHC) results. The highly variable...
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