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A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers: a sigmoid colon cancer at the age of 39 years, and a right colon cancer at the age of 50 years. The mutation identified in his blood and buccal cells, c....

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Airaud, Fabrice, Küry, Sébastien, Valo, Isabelle, Maury, Ingrid, Bonneau, Dominique, Ingster, Olivier, Bezieau, Stéphane
Format: Artigo
Sprache:Inglês
Veröffentlicht: Baishideng Publishing Group Co., Limited 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3482653/
https://ncbi.nlm.nih.gov/pubmed/23112559
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.v18.i39.5635
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