癌症中的STAG突变
STAG Mutations in Cancer.
作者信息
Romero-Pérez Laura, Surdez Didier, Brunet Erika, Delattre Olivier, Grünewald Thomas G P
机构信息
Max-Eder Research Group for Pediatric Sarcoma Biology, Institute of Pathology, Faculty of Medicine, LMU, Munich, Germany.
INSERM U830, Équipe Labellisé LNCC "Genetics and Biology of Pediatric Cancers", fhna PSL Université, SIREDO Oncology Centre, Institut Curie, Paris, France.
出版信息
Trends Cancer. 2019 Aug;5(8):506-520. doi: 10.1016/j.trecan.2019.07.001. Epub 2019 Jul 31.
Stromal Antigen 1 and 2 (STAG1/2) are key subunits of the cohesin complex that mediate sister chromatid cohesion, DNA repair, transcriptional regulation, and genome topology. Genetic alterations comprising any of the 11 cohesin-associated genes possibly occur in up to 26% of patients included in The Cancer Genome Atlas (TCGA) studies. STAG2 shows the highest number of putative driver truncating mutations. We provide a comprehensive review of the function of STAG1/2 in human physiology and disease and an integrative analysis of available omics data on STAG alterations in a wide array of cancers, comprising 53 691 patients and 1067 cell lines. Lastly, we discuss opportunities for therapeutic intervention.
基质抗原1和2（STAG1/2）是黏连蛋白复合体的关键亚基，介导姐妹染色单体黏连、DNA修复、转录调控和基因组拓扑结构。在癌症基因组图谱（TCGA）研究涵盖的患者中，高达26%的患者可能发生包含11个黏连蛋白相关基因中任何一个的基因改变。STAG2显示出推定驱动截短突变的数量最多。我们全面综述了STAG1/2在人类生理和疾病中的功能，并对涉及53691名患者和1067个细胞系的多种癌症中STAG改变的现有组学数据进行了综合分析。最后，我们讨论了治疗干预的机会。
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