A rare large duplication of MLH1 identified in Lynch syndrome

A rare large duplication of MLH1 identified in Lynch syndrome

Abstract Background 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...

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Main Authors: 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
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
Genetic predisposition
Lynch syndrome
Mismatch repair genes
Whole-genome sequencing
Online Access:https://doi.org/10.1186/s13053-021-00167-0

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