DNA错配修复
校对
微卫星不稳定性
结直肠癌
种系突变
聚合酶
生物
癌症研究
生殖系
突变
癌症
医学
遗传学
DNA
微卫星
基因
等位基因
作者
R. Bourdais,Benoı̂t Rousseau,Anaïs Pujals,H. Boussion,Charlotte Joly,A Guillemin,Isabelle Baumgaertner,Cindy Neuzillet,Christophe Tournigand
标识
DOI:10.1016/j.critrevonc.2017.03.027
摘要
Immune checkpoint inhibition is a new therapeutic strategy that has shown promising efficacy in many cancer types. Significant activity associated with mismatch repair (MMR) deficiency has been observed in hypermutated, microsatellite unstable (MSI) metastatic colorectal cancer (CRC). Beyond deficient-MMR tumors, somatic or germline DNA polymerase D1 (POLD1) or DNA polymerase E (POLE) alterations cause a hypermutated phenotype in CRC. This recently identified and rare subgroup of proficient-MMR tumors may also benefit from immunotherapy. In this review, we provide a comprehensive overview of recent data on CRC tumors harboring POLD1 or POLE mutations, with a focus on their molecular, histological, and clinical features. We also examine the evidence supporting the development of immune checkpoint inhibitors in this specific subgroup of CRC patients.
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