医学
彭布罗利珠单抗
癌症研究
结直肠癌
DNA修复
突变
微卫星不稳定性
DNA
DNA错配修复
基因
癌症
免疫疗法
遗传学
生物
微卫星
等位基因
摘要
Nothing has changed cancer therapy more in the past 5 to 10 years than the introduction of immune checkpoint inhibitors. In solid tumors, the activity of these agents is commonly linked to the presence of a hypermutated phenotype with the expression of tumor-specific neoantigens at the surface of cancer cells that can serve as targets for T cells. A higher tumor mutation burden can be the result of exogenous, DNA-damaging carcinogens, such as ultraviolet light and smoking, or linked to cell-intrinsic deficiencies in DNA repair mechanisms. Germline mutations in genes encoding mismatch repair proteins are the hallmarks of the Lynch . . .
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