Year 2020 / Volume 112 / Number 9
Review
Genetic alterations in colorectal cancer: implications for the prognosis and treatment of the disease

716-721

DOI: 10.17235/reed.2020.7209/2020

Sofía del Carmen, José María Sayagués, Mar Abad,

Abstract
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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del Carmen S, Sayagués J, Abad M. Genetic alterations in colorectal cancer: implications for the prognosis and treatment of the disease . 7209/2020


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Publication history

Received: 02/05/2020

Accepted: 10/06/2020

Online First: 05/08/2020

Published: 10/09/2020

Article revision time: 35 days

Article Online First time: 95 days

Article editing time: 131 days


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