Della Valle A, Neffa F, Esperon P, Vergara C, Carusso F, Menini M, Sapone M, Bentancor K, Cawen S, García L, Sumba A and Artagaveytia N
Colorectal cancer (CRC) is one of the leading causes of death worldwide, thus a public health concern. Even though most of the cases have a sporadic origin, a significant 10% are affected by a genetic predisposition. An inherited impaired function in the cellular mismatch repair (MMR) system of any MMR gene diagnoses the most frequent genetic syndrome associated with CRC, Lynch Syndrome. The faulty MMR system is directly associated with the presence of microsatellite instability. In this project, the authors present a microsatellite instability retrospective analysis in CRC samples of 252 patients, performed between 2013 and 2018, in the Molecular Analysis Laboratory of the Tumor Bank of Uruguay. Data from both high risk and general population-CRC patient samples were tested for microsatellite instability. From a cohort of 252 non-selected CRC patients who underwent MSI screening, 91 CRCs with MSI-H patients were identified to be in need of a different therapeutic and follow up approach. Additional benefits on utilizing MMR status rely on: prognosis information, differential chemosensitivity, and immunotherapy applicability. Timely management, treatment, and risk-reducing strategies are vital for MMR carriers. The modification of therapeutic standards by making a more opportune risk selection, benefits the patient, their families and has a positive economic impact. The recognition of colon cancer molecular subtypes represents the present reality for personalized medicine.
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