High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine

Gatalica, Zoran; Vranić, Semir; Xiu, Joanne; Swensen, Jeffrey; Reddy, Sandeep

doi:10.1007/s10689-016-9884-6

Cited by 119 publications

(118 citation statements)

References 58 publications

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“…As Lynch syndrome–associated MSI-H tumors have been shown to have higher somatic mutation burden, 12,77 we performed additional analyses to detect potential hypermutation in MSI-H ACC, CESC, and MESO. Somatic variant calling was performed on whole-exome samples from these four cancer types, and the mean absolute number of somatic mutations—both nonsynonymous and synonymous—was found to be increased among MSI-H versus MSS tumors within their own cohorts (Fig 3).…”

Section: Resultsmentioning

confidence: 99%

Landscape of Microsatellite Instability Across 39 Cancer Types

Bonneville

Krook

Kautto

et al. 2017

JCO Precision Oncology

1,034

842

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Purpose Microsatellite instability (MSI) is a pattern of hypermutation that occurs at genomic microsatellites and is caused by defects in the mismatch repair system. Mismatch repair deficiency that leads to MSI has been well described in several types of human cancer, most frequently in colorectal, endometrial, and gastric adenocarcinomas. MSI is known to be both predictive and prognostic, especially in colorectal cancer; however, current clinical guidelines only recommend MSI testing for colorectal and endometrial cancers. Therefore, less is known about the prevalence and extent of MSI among other types of cancer. Methods Using our recently published MSI-calling software, MANTIS, we analyzed whole-exome data from 11,139 tumor-normal pairs from The Cancer Genome Atlas and Therapeutically Applicable Research to Generate Effective Treatments projects and external data sources across 39 cancer types. Within a subset of these cancer types, we assessed mutation burden, mutational signatures, and somatic variants associated with MSI. Results We identified MSI in 3.8% of all cancers assessed—present in 27 of tumor types—most notably adrenocortical carcinoma (ACC), cervical cancer (CESC), and mesothelioma, in which MSI has not yet been well described. In addition, MSI-high ACC and CESC tumors were observed to have a higher average mutational burden than microsatellite-stable ACC and CESC tumors. Conclusion We provide evidence of as-yet-unappreciated MSI in several types of cancer. These findings support an expanded role for clinical MSI testing across multiple cancer types as patients with MSI-positive tumors are predicted to benefit from novel immunotherapies in clinical trials.

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Section: Resultsmentioning

confidence: 99%

Landscape of Microsatellite Instability Across 39 Cancer Types

Bonneville

Krook

Kautto

et al. 2017

JCO Precision Oncology

1,034

842

View full text Add to dashboard Cite

show abstract

“…It was generally acknowledged that the numbers of mitochondria showed an increase in high metabolism cells like heart muscle cells. Adequate amounts of energy were a necessary precondition for the uncontrolled rapid proliferation of cancer cells [50]. The number of mitochondria, such logic goes, was increased in the cancer tissues.…”

Section: Discussionmentioning

confidence: 99%

“…Recent studies had shown that nuclear genome microsatellite instability was the significant predictor of prognosis CRCs [50, 72]. Much work remains to be done to make the definitive relationship between the mtMSI and nMSI clear.…”

Section: Discussionmentioning

confidence: 99%

Can Mitochondria DNA Provide a Novel Biomarker for Evaluating the Risk and Prognosis of Colorectal Cancer?

Han

Pan

2017

Disease Markers

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Colorectal cancer (CRC) was one of the most frequent cancers worldwide. Accurate risk and prognosis evaluation could obtain better quality of life and longer survival time for the patients. Current research hotspot was focus on the gene biomarker to evaluate the risk and prognosis. Mitochondrion contains its own DNA and regulates self-replicating so that it can be as a candidate biomarker for evaluating the risk and prognosis of colorectal cancer. But there were already huge controversies on this issue. The review was to summarize current viewpoints of the controversial issues and described our understanding from the four aspects including mtDNA copy number, mitochondrial displacement loop, mtDNA variation, and mtDNA microsatellite instability, wishing the summary of the mtDNA in colorectal cancer could provide a meaningful reference or a valuable direction in the future studies.

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“…Immunotherapies are active in patients with MSI-H mCRC [34]. Based on its durable responses and long-term survival benefit, the anti-programmed cell death 1 receptor (PD-1) monoclonal antibody pembrolizumab was recently approved by the US FDA for use in adult and paediatric patients with unresectable or metastatic, MSI-H or MMR-deficient solid tumours that have progressed following prior treatment and who have no other satisfactory alternative treatment options, or in patients with CRC that has progressed following treatment with a fluoropyrimidine, oxaliplatin, and irinotecan [35,36].…”

Section: Microsatellite Instability (Msi)mentioning

confidence: 99%

Recent Advances in the Use of Molecular Biomarkers in Colorectal Cancer

Ahmed¹

2017

J Mol Genet Med

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Globally, colorectal cancer (CRC) is the third most common cancer in men and the second most common cancer in women, accounting for an estimated 1.4 million new cases and almost 700,000 deaths in 2012. Global incidences vary 10-fold, with the highest rates occurring in developed countries (e.g., Australia, New Zealand, Europe, the United States of America [USA]) and the lowest rates occurring in Africa and South-Central Asia. Within Europe in 2008, the highest incidence of colorectal cancer was in Hungary and Denmark. The lowest incidence was in Cyprus and Greece. In Ireland an annual average of 1445 colon cancer and 606 rectal cancers was registered between 2005 and 2009. Approximately 21% of patients with CRC have metastases at diagnosis, and nearly 50% have cancers that will eventually metastasize, accounting for the high mortality rate. Patients with early stage CRC often have no symptoms, which reinforces the importance of screening. This activity briefly describes the rationale for using molecular markers in the diagnosis and prognosis of CRC.

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High microsatellite instability (MSI-H) colorectal carcinoma: a brief review of predictive biomarkers in the era of personalized medicine

Cited by 119 publications

References 58 publications

Landscape of Microsatellite Instability Across 39 Cancer Types

Landscape of Microsatellite Instability Across 39 Cancer Types

Can Mitochondria DNA Provide a Novel Biomarker for Evaluating the Risk and Prognosis of Colorectal Cancer?

Recent Advances in the Use of Molecular Biomarkers in Colorectal Cancer

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