Somatic microsatellite variability as a predictive marker for colorectal cancer and liver cancer progression

Vaksman, Zalman; Garner, Harold R.

doi:10.18632/oncotarget.3306

Cited by 7 publications

(2 citation statements)

References 42 publications

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“…Microsatellites are simple sequence repeats (SSRs) that are widely distributed within the biological genome. These repetitive units consist of 1–6 nucleotides (Vaksman and Garner 2015). Although microsatellites are widely distributed within the genome, their distribution patterns are not random.…”

Section: Microsatellites and Msimentioning

confidence: 99%

Correlations between microsatellite instability and the biological behaviour of tumours

Yang

Zheng

Jin

2019

J Cancer Res Clin Oncol

109

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PurposeMicrosatellites are widely distributed repetitive DNA motifs, accounting for approximately 3% of the genome. Due to mismatch repair system deficiency, insertion or deletion of repetitive units often occurs, leading to microsatellite instability. In this review, we aimed to explore the relationship between MSI and biological behaviour of colorectal carcinoma, gastric carcinoma, lymphoma/leukaemia and endometrial carcinoma, as well as the application of frameshift peptide vaccines in cancer therapy.MethodsThe relevant literature from PubMed and Baidu Xueshu were reviewed in this article. The ClinicalTrials.gov database was searched for clinical trials related to the specific topic.ResultsMicrosatellite instability is divided into three subtypes: high-level, low-level microsatellite instability, and stable microsatellites. The majority of tumour patients with high-level microsatellite instability often show a better efficacy and prognosis than those with low-level microsatellite instability or stable microsatellites. In coding regions, especially for genes involved in tumourigenesis, microsatellite instability often results in inactivation of proteins and contributes to tumourigenesis. Moreover, the occurrence of microsatellite instability in coding regions can also cause the generation of frameshift peptides that are thought to be unknown and novel to the individual immune system. Thus, these frameshift peptides have the potential to be biomarkers to raise tumour-specific immune responses.ConclusionMSI has the potential to become a key predictor for evaluating the degree of malignancy, efficacy and prognosis of tumours. Clinically, MSI patterns will provide more valuable information for clinicians to create optimal individualized treatment strategies based on frameshift peptides vaccines.

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Section: Microsatellites and Msimentioning

confidence: 99%

Correlations between microsatellite instability and the biological behaviour of tumours

Yang

Zheng

Jin

2019

J Cancer Res Clin Oncol

109

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“… 8 , 9 , 10 , 12 We have also shown somatic MST variability and the presence of minor alleles can act as indicative disease markers for colorectal and liver cancer. 15 Furthermore, microsatellite variations are somatically acquired in normal tissues as one ages at rates higher than single nucleotide variants and that they are a sensitive measure of toxic environmental exposures. 16 , 17 …”

Section: Introductionmentioning

confidence: 99%

High-depth, high-accuracy microsatellite genotyping enables precision lung cancer risk classification

Velmurugan

Varghese

Fonville³

et al. 2017

Oncogene

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There remains a large discrepancy between the known genetic contributions to cancer and that which can be explained by genomic variants, both inherited and somatic. Recently, understudied repetitive DNA regions called microsatellites have been identified as genetic risk markers for a number of diseases including various cancers (breast, ovarian and brain). In this study, we demonstrate an integrated process for identifying and further evaluating microsatellite-based risk markers for lung cancer using data from the cancer genome atlas and the 1000 genomes project. Comparing whole-exome germline sequencing data from 488 TCGA lung cancer samples to germline exome data from 390 control samples from the 1000 genomes project, we identified 119 potentially informative microsatellite loci. These loci were found to be able to distinguish between cancer and control samples with sensitivity and specificity ratios over 0.8. Then these loci, supplemented with additional loci from other cancers and controls, were evaluated using a target enrichment kit and sample-multiplexed nextgen sequencing. Thirteen of the 119 risk markers were found to be informative in a well powered study (>0.99 for a 0.95 confidence interval) using high-depth (579x±315) nextgen sequencing of 30 lung cancer and 89 control samples, resulting in sensitivity and specificity ratios of 0.90 and 0.94, respectively. When 8 loci harvested from the bioinformatic analysis of other cancers are added to the classifier, then the sensitivity and specificity rise to 0.93 and 0.97, respectively. Analysis of the genes harboring these loci revealed two genes (ARID1B and REL) and two significantly enriched pathways (chromatin organization and cellular stress response) suggesting that the process of lung carcinogenesis is linked to chromatin remodeling, inflammation, and tumor microenvironment restructuring. We illustrate that high-depth sequencing enables a high-precision microsatellite-based risk classifier analysis approach. This microsatellite-based platform confirms the potential to create clinically actionable diagnostics for lung cancer.

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Molekulare Klassifikation beim Endometriumkarzinom

Bronsert

Kurowski²,

Werner³

et al. 2023

Gynäkologie

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Somatic microsatellite variability as a predictive marker for colorectal cancer and liver cancer progression

Cited by 7 publications

References 42 publications

Correlations between microsatellite instability and the biological behaviour of tumours

Correlations between microsatellite instability and the biological behaviour of tumours

High-depth, high-accuracy microsatellite genotyping enables precision lung cancer risk classification

Molekulare Klassifikation beim Endometriumkarzinom

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