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Biomédica
versão impressa ISSN 0120-4157versão On-line ISSN 2590-7379
Resumo
HUMBERTO AFANADOR, Carlos et al. Molecular characterization of colorectal cancer patients. Biomed. [online]. 2022, vol.42, suppl.1, pp.154-171. Epub 01-Maio-2022. ISSN 0120-4157. https://doi.org/10.7705/biomedica.5957.
Introduction:
Colorectal cancer has a high incidence in the world population. Different molecular pathways, such as chromosomal instability, microsatellite instability, and epigenetics are involved in its development.
Objective:
To perform molecular characterization in 44 individuals with sporadic colorectal cancer.
Materials and methods:
We conducted mutation analyses of the APC, KRAS, TP53 y BRAF genes using Sanger sequencing techniques; microsatellite instability was determined by capillary electrophoresis with five STR genetic markers while the methylation status of the MHL1 promotor gene was analyzed using methylation-specific PCR.
Results:
APC, KRAS, and TP53 genes mutation frequency was 18.1%, 25%, and 4.5%, respectively; the somatic mutations detected were located more frequently in the right colon. The frequency of microsatellite instability was 27.2% and 73.1% of the tumors had the MHL1 gene methylated while 91.6% of microsatellite instability-positive tumors had the methylated MLH1 gene. The mutation profile of microsatellite stability tumors APC, KRAS, and TP53 genes was more frequent than in the microsatellite instability-positive tumors. The methylation of the MLH1 gene was the most predominant molecular alteration.
Conclusions:
We identified molecular alterations in different genetic pathways of the colorectal cancer patients evaluated, which are common in the carcinogenesis of this cancer. These patients showed a different mutational profile compared to other populations. Our findings confirm the molecular heterogeneity described in the development of colorectal cancer.
Palavras-chave : Colorectal neoplasms/genetics; gene, tumor suppressor; oncogenes; genetic heterogeneity; microsatellite instability; epigenomics.