Year 2020 / Volume 112 / Number 9
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Year 2020 / Volume 112 / Number 9


Genetic alterations in colorectal cancer: implications for the prognosis and treatment of the disease


Sofía del Carmen, José María Sayagués, Mar Abad,

In recent years, important advances have been achieved in the understanding of the genetic abnormalities present in colorectal tumors and their association with their ontogeny and progression. Accordingly, while the presence of mutations in the APC and/or KRAS genes is associated with neoplastic transformation, mutations in SMAD and DCC, different chromosomal abnormalities located at 7, 17p and 18q, and complex karyotypes are frequently linked with tumor progression. From a clinical point of view, the presence of microsatellite instability (MSI) is associated with lower relapse rates and a greater overall survival, as well as resistance to adjuvant treatment with fluoropyrimidines, whereas mutations in the BRAF gene have been associated with early relapse. At the molecular level, studies of intratumoral genetic heterogeneity associated with the metastatic process of colorectal cancer (CRC) have focused on analyzing mutations in the genes involved in the treatment of the disease. In fact, different mutational profiles have been observed among primary tumors, lymph node metastases and liver metastases in the same patient. In this sense, the genetic heterogeneity of CRC at the intratumor level may explain the high relapse rates reported and the refractory nature of tumors treated with monoclonal antibodies.

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The Spanish Journal of Gastroenterology is the official organ of the Sociedad Española de Patología Digestiva, the Sociedad Española de Endoscopia Digestiva and the Asociación Española de Ecografía Digestiva
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