期刊
FAMILIAL CANCER
卷 15, 期 3, 页码 405-412出版社
SPRINGER
DOI: 10.1007/s10689-016-9884-6
关键词
Colorectal cancer; Microsatellite instability; Lynch syndrome; Biomarkers; Conventional chemotherapy; Targeted therapy
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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