作者: Sérgia Velho , Maria Sofia Fernandes , Marina Leite , Ceu Figueiredo , Raquel Seruca
DOI: 10.3748/WJG.V20.I44.16433
关键词: Cancer 、 Germline 、 Genetics 、 Genome 、 DNA mismatch repair 、 Gene 、 Phenotype 、 Microsatellite instability 、 Mutation 、 Biology
摘要: Loss of DNA mismatch repair (MMR) function, due to somatic or germline epi/genetic alterations MMR genes leads the accumulation numerous mutations across genome, creating a molecular phenotype known as microsatellite instability (MSI). In gastric cancer (GC), MSI occurs in about 15% 30% cases. This review summarizes current knowledge on mechanisms underlying acquisition GC well clinic, pathologic and consequences phenotype. Additionally, therapeutic strategies for their applicability subset are also discussed.