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. 2024 Mar 12;16(6):1128.
doi: 10.3390/cancers16061128.

Determination of the Prevalence of Microsatellite Instability, BRAF and KRAS/ NRAS Mutation Status in Patients with Colorectal Cancer in Slovakia

Tomas Rendek  1 , Rami Saade  2 , Ondrej Pos  3   4 , Georgina Kolnikova  5 , Monika Urbanova  5 , Jaroslav Budis  3   4 , Luboslav Mihok  6 , Miroslav Tomas  7 , Tomas Szemes  3   4 , Vanda Repiska  1
Affiliations

Determination of the Prevalence of Microsatellite Instability, BRAF and KRAS/ NRAS Mutation Status in Patients with Colorectal Cancer in Slovakia

Tomas Rendek et al. Cancers (Basel). .

Abstract

Slovakia has one of the highest rates of colorectal cancer among the developed countries, ranking as the second highest in the incidence of this disease for men worldwide. Despite the significant burden on both quality of life and the healthcare system this disease imposes, data on molecular analysis of biomarkers in CRC-diagnosed patients is scarce. In our study, we analyzed confirmed CRC patients from the database of the National Cancer Institute (NCI) and evaluated the presence of 4 biomarkers in tumor tissues. Altogether, 83 FFPE tumor tissues from CRC patients listed in the NCI database were analyzed for microsatellite instability status, presence of BRAF and KRAS/NRAS mutations, and neoplastic cell percentage in tissue samples. We identified 4 MSI-high samples, 39 KRAS/NRAS mutations, and 5 BRAF p.V600E mutations, with one case of coexistence of all three markers in a single tumor sample. We also evaluated possible relationships between biomarkers, their coexistence, and the age and sex of the studied population.

Keywords: BRAF; KRAS; NRAS mutations; colorectal cancer; microsatellite instability.

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Conflict of interest statement

Authors O.P., J.B. and T.S. are employees of Geneton Ltd. and are involved in numerous research and development efforts for adapting new technologies to better understand genomic data and facilitate their implementation in patient care. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Plot of patients (P) enrolled in the study, visualizing diagnosis, age, gender, neoplastic cells percentage (NCP) in a tissue sample, mutation status of RAS, BRAF, and MSI status. The color representation of each parameter is explained in the legend below the plot.
Figure 2
Figure 2
Percentage distribution of patients according to sex and age, clustered into age groups.
See this image and copyright information in PMC

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