Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity within tumor-related genes in colorectal cancer

Autor: Xueyun Huo, Dandan Feng, Shuangyue Zhang, Zhenkun Li, Xiaohong Li, Changlong Li, Meng Guo, Jin Wang, Zhongtao Zhang, Qingxian Lu, Xiaoyan Du, Zhigang Bai, Zhenwen Chen
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-13 (2021)
Druh dokumentu: article
ISSN: 1755-8794
DOI: 10.1186/s12920-021-01051-5
Popis: Abstract Background Microsatellite instability (MSI) is a biomarker for better outcomes in colorectal cancer (CRC). However, this conclusion is controversial. In addition, MSs can be a useful marker for loss of heterozygosity (LOH) of genes, but this finding has not been well studied. Here, we aimed to clarify the predictive value of MSI/LOH within tumor-related genes in CRC. Methods We detected MSI/LOH of MSs in tumor-related genes and the Bethesda (B5) panel by STR scanning and cloning/sequencing. We further analyzed the relationship between MSI/LOH status and clinical features or outcomes by Pearson’s Chi-square test, Fisher’s exact test and the Kaplan–Meier method. Results The findings indicated that the MSI rates of B5 loci were all higher than those of loci in tumor-related genes. Interestingly, MSI/LOH of 2 loci in the B5 panel and 12 loci in tumor-related genes were associated with poorer outcomes, while MSI/LOH of the B5 panel failed to predict outcomes in CRC. MSI of BAT25, MSI/LOH of BAT26 and MSI of the B5 panel showed closer relationships with mucinous carcinoma. In addition, LOH-H of the B5 panel was associated with increased lymphatic metastasis. Conclusions In summary, MSI/LOH of certain loci or the whole panel of B5 is related to clinical features, and several loci within tumor-related genes showed prognostic value in the outcomes of CRC.
Databáze: Directory of Open Access Journals
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