Current perspectives on CHEK2 mutations in breast cancer.
Current perspectives on CHEK2 mutations in breast cancer.
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DOI：
10.2147/bctt.s111394
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Papasotiriou I
中科院分区：
文献类型：
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作者：
Apostolou P;Papasotiriou I
检查点激酶2（CHEK 2）是一种丝氨酸/苏氨酸激酶，其在DNA损伤时被激活，并且参与响应于初始损伤而控制DNA修复、细胞周期停滞或细胞凋亡的途径。激酶功能的丧失与不同类型的癌症相关，主要是乳腺癌。CHEK 2功能受到不同错义或有害突变的影响。CHEK 2 * 1100 delC和I157 T在全世界人群中研究最多。虽然这些变异已经在乳腺癌患者中被发现，但它们的频率引起了人们对它们作为风险因素的重要性的怀疑。本文根据最新的实验数据，以乳腺癌为重点，对CHEK 2基因突变的研究进展进行综述。
Checkpoint kinase 2 (CHEK2) is a serine/threonine kinase which is activated upon DNA damage and is implicated in pathways that govern DNA repair, cell cycle arrest or apoptosis in response to the initial damage. Loss of kinase function has been correlated with different types of cancer, mainly breast cancer. CHEK2 functionality is affected by different missense or deleterious mutations. CHEK2*1100delC and I157T are most studied in populations all over the world. Although these variants have been identified in patients with breast cancer, their frequency raises doubts about their importance as risk factors. The present article reviews the recent advances in research on CHEK2 mutations, focusing on breast cancer, based on the latest experimental data.