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Genetic Knowledge of Colorectal Cancer

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Colon Polyps and Colorectal Cancer

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Abstract

Colorectal cancers are a group of diseases caused by genetic predisposition, nutritional habits, lifestyle, and environmental factors. Colorectal cancers may occur due to changes in a number of well-defined colorectal cancer-related genes so far, as well as inherited factors that create familial risk. Of these genetic factors, the ones which are well-defined, highly penetrant, and associated with specific clinical syndromes cause hereditary colorectal cancers. Approximately 5–10% of all colorectal cancers are hereditary. Hereditary colorectal cancers are classified into two main groups as “hereditary non-polyposis colorectal cancer” and “hereditary colorectal cancers with polyposis” according to histopathological evaluation. While hereditary non-polyposis colorectal cancers are mainly associated with mismatch repair genes causing microsatellite instability, hereditary colorectal cancers with polyposis are associated with the APC gene. In the diagnosis of these disorders, the use of “next-generation sequence analysis” of multigene panels improved the diagnosis rates with better cost and time effectiveness. Determining the gene in which the germline mutation is involved is critical since it will guide the genetic counseling and prophylactic follow-up approaches.

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  1. Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey

    Ozgur Kirbiyik & Berk Özyilmaz

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  1. Ozgur Kirbiyik
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  1. Department of Surgery, Izmir Tepecik Training and Research Hospital, Konak, Izmir, Turkey

    Omer Engin

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Kirbiyik, O., Özyilmaz, B. (2021). Genetic Knowledge of Colorectal Cancer. In: Engin, O. (eds) Colon Polyps and Colorectal Cancer. Springer, Cham. https://doi.org/10.1007/978-3-030-57273-0_24

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