Screening and genetic biomarkers in colorectal cancer: a narrative review of recent evidence
DOI:
https://doi.org/10.55892/jrg.v8i19.2780Keywords:
Colorectal cancer. Screening. Genetic biomarkers; p53. KRAS. Personalized medicineAbstract
Colorectal cancer is one of the most common malignant neoplasms worldwide, ranking third among men and second among women. Its high mortality rate is largely related to late detection and the absence of systematic screening. Recent advances in molecular biology have made it possible to identify genetic biomarkers capable of revolutionizing early diagnosis, prognosis, and personalized treatment. This narrative review aimed to gather and analyze scientific evidence published between 2006 and 2024 on CRC screening and the role of key genetic biomarkers. Articles from the SciELO, LILACS, and PubMed databases were included. The findings show that the integration between traditional screening methods (colonoscopy, FIT, and fecal DNA) and molecular tests, involving genes such as p53, KRAS, APC, MLH1, MSH2, and BRAF, promotes early diagnosis and greater therapeutic efficacy. Mutations in p53 and KRAS are associated, respectively, with tumor aggressiveness and resistance to anti-EGFR therapies, while alterations in MLH1/MSH2 indicate hereditary predisposition (Lynch syndrome). It is concluded that screening associated with genomic analysis is an indispensable tool to reduce mortality and consolidate personalized medicine in CRC.
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