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Open Access 01-07-2016 | Original Article

High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine

Authors: Zoran Gatalica, Semir Vranic, Joanne Xiu, Jeffrey Swensen, Sandeep Reddy

Published in: Familial Cancer | Issue 3/2016

Abstract

Approximately 15 % of colorectal carcinomas (CRC) display high level microsatellite instability (MSI-H) due to either a germline mutation in one of the genes responsible for DNA mismatch repair (Lynch syndrome, 3 %) or somatic inactivation of the same pathway, most commonly through hypermethylation of the MLH1 gene (sporadic MSI-H, 12 %). Although heterogeneous, MSI-H colorectal carcinomas as a group show some distinct biologic characteristics when compared to CRC with stable or low level microsatellite instability. In the present review we will highlight therapeutically relevant characteristics of MSI-H tumors which could lead to specific responses to some conventional chemotherapy or novel targeted therapy agents.

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Title: High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine
Authors: Zoran Gatalica
Semir Vranic
Joanne Xiu
Jeffrey Swensen
Sandeep Reddy
Publication date: 01-07-2016
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 3/2016
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-016-9884-6

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