微卫星不稳定性影响 HSP110 内含子 8 中的 T17 重复序列，以及结直肠癌患者的五个单核苷酸重复序列。

Microsatellite instability affecting the T17 repeats in intron 8 of HSP110, as well as five mononucleotide repeats in patients with colorectal carcinoma.

机构信息

Center for Gastroenterology & Hepatology, University City Hospital, Belgrade, Serbia.

出版信息

Biomark Med. 2013 Aug;7(4):613-21. doi: 10.2217/bmm.13.46.

DOI:10.2217/bmm.13.46

PMID:23905898

Abstract

AIM

To investigate mononucleotide markers: BAT-25, BAT-26, NR-21, NR-22 and NR-24 in patients with colorectal cancer (CRC), and the status of HSP110T17, KRAS, BRAF and the MLH1 promoter mutations in microsatellite unstable CRC.

METHODS

Genetic assessments were performed on samples obtained following resection of CRC in 200 patients.

RESULTS

Allelic variations of HSP110T17 were found in all 18 patients with microsatellite instabilities (MSIs) in at least three markers (high-frequency MSI). By contrast, mutations of HSP110T17 were absent in all 20 patients with no MSI frequency. Eight out of 182 patients with low (instability in one marker) or no frequency MSI had allelic shifts due to polymorphisms of BAT-25 (1.5%), NR-21 (1.75%) and NR-24 (1.5%). BRAF mutations were associated with >5 bp shortening of HSP110T17.

CONCLUSION

Patients with high-frequency MSI CRC had allelic variations of HSP110T17. BRAF mutations occur along with greater shortening in HSP110T17 during oncogenesis via the MSI pathway.

摘要

目的

研究结直肠癌（CRC）患者中的单核苷酸标记物 BAT-25、BAT-26、NR-21、NR-22 和 NR-24，以及微卫星不稳定 CRC 中 HSP110T17、KRAS、BRAF 和 MLH1 启动子突变的状态。

方法

对 200 例 CRC 切除术后获得的样本进行遗传评估。

结果

在至少三个标记物（高频 MSI）中存在微卫星不稳定性（MSI）的 18 例患者中均发现 HSP110T17 的等位基因变异。相比之下，在所有 20 例无 MSI 频率的患者中均未发现 HSP110T17 的突变。在低（一个标记物不稳定）或无 MSI 频率的 182 例患者中，有 8 例因 BAT-25（1.5%）、NR-21（1.75%）和 NR-24（1.5%）的多态性而出现等位基因移位。BRAF 突变与 HSP110T17 长度缩短>5 bp 相关。