Biallelic MUTYH mutations can mimic Lynch syndrome

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,...

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Hlavní autoři: Morak, Monika, Heidenreich, Barbara, Keller, Gisela, Hampel, Heather, Laner, Andreas, de la Chapelle, Albert, Holinski-Feder, Elke
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4200426/
https://ncbi.nlm.nih.gov/pubmed/24518836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.15
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