July 1, 2025

The Role of Pathogenic Mutations in Colorectal Cancer

GMGhufran MerieNorthern Technical University

Key Points

Pathogenic mutations in genes like APC and KRAS influence colorectal cancer outcomes, including treatment response.
Key mutations are connected to unchecked cell proliferation and metastasis, impacting cancer progression.
Genomic profiling has improved our understanding, enabling more personalized treatment approaches for CRC.
Germline mutations in APC and DNA mismatch repair genes lead to hereditary syndromes like Lynch syndrome.

Abstract

One of the most common cancers in the world, colorectal cancer (CRC) is influenced by both environmental and genetic factors. Pathogenic mutations are among the genetic factors that are crucial to the development, course, and response to treatment of colorectal cancer. Unchecked cell proliferation, apoptosis evasion, and metastasis result from key mutations in genes like APC, KRAS, TP53, PIK3CA, and SMAD4 that disrupt important signalling pathways like Wnt/β-catenin, MAPK, PI3K/AKT, and TGF-β. Furthermore, germline mutations in the APC gene and DNA mismatch repair genes, respectively, are the cause of hereditary syndromes such as Lynch syndrome and Familial Adenomatous Polyposis (FAP). We now have a better understanding of these mutations thanks to developments in genomic profiling, which enables more individualized treatment strategies. The main pathogenic mutations linked to colorectal cancer (CRC) are highlighted in this review along with their biological significance, diagnostic implications, and potential as therapeutic targets.

Ask AI

Helpful

Bookmark

View Full Paper