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A rare large duplication of MLH1 identified in Lynch syndrome

The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors for immunohistochemical staining (IHC) of the Lynch syndrome-associated DNA MMR proteins and...

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Main Authors: Kumar, Abhishek (Author) , Paramasivam, Nagarajan (Author) , Bandapalli, Obul Reddy (Author) , Schlesner, Matthias (Author) , Chen, Tianhui (Author) , Sijmons, Rolf (Author) , Dymerska, Dagmara (Author) , Golebiewska, Katarzyna (Author) , Kuswik, Magdalena (Author) , Lubinski, Jan (Author) , Hemminki, Kari (Author) , Försti, Asta (Author)
Format: Article (Journal)
Language:English
Published: 19 January 2021
In: Hereditary cancer in clinical practice
Year: 2021, Volume: 19, Pages: 1-7
ISSN:1897-4287
DOI:10.1186/s13053-021-00167-0
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13053-021-00167-0
Verlag, lizenzpflichtig, Volltext: https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-021-00167-0
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Author Notes:Abhishek Kumar, Nagarajan Paramasivam, Obul Reddy Bandapalli, Matthias Schlesner, Tianhui Chen, Rolf Sijmons, Dagmara Dymerska, Katarzyna Golebiewska, Magdalena Kuswik, Jan Lubinski, Kari Hemminki, Asta Försti
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Summary:The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors for immunohistochemical staining (IHC) of the Lynch syndrome-associated DNA MMR proteins and/or for microsatellite instability (MSI) followed by sequencing or other techniques, such as denaturing high performance liquid chromatography (DHPLC), to identify the mutation.
Item Description:Gesehen am 03.03.2021
Physical Description:Online Resource
ISSN:1897-4287
DOI:10.1186/s13053-021-00167-0

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