Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome

We assessed mismatch repair by immunohistochemistry (IHC) and microsatellite instability (MSI) analysis in an early onset endometrial cancer and a sister’s colon cancer. We demonstrated high-level MSI and normal expression for MLH1, MSH2 and MSH6. PMS2 failed to stain in both tumors, strongly implic...

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Hlavní autoři: Zighelboim, Israel, Powell, Matthew A., Babb, Sheri A., Whelan, Alison J., Schmidt, Amy P., Clendenning, Mark, Senter, Leigha, Thibodeau, Stephen N., de la Chapelle, Albert, Goodfellow, Paul J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Netherlands 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2771133/
https://ncbi.nlm.nih.gov/pubmed/19672700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10689-009-9276-2
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