Open AccessAssessment of the Role of Selected SMAD3 and SMAD4 Genes Polymorphisms in the Development of Colorectal Cancer: Preliminary Research
Author(s) -
Agnieszka Wosiak,
Damian Wodziński,
Katarzyna Michalska,
Jacek Pietrzak,
Radzisław Kordek,
Ewa Balcerczak
Publication year - 2021
Publication title -
pharmacogenomics and personalized medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.845
H-Index - 28
ISSN - 1178-7066
DOI - 10.2147/pgpm.s281958
Subject(s) - colorectal cancer , carcinogenesis , single nucleotide polymorphism , medicine , mouse model of colorectal and intestinal cancer , smad , cancer research , gene , genotyping , transforming growth factor , genotype , cancer , bioinformatics , genetics , biology
Colon cancer is one of the most common types of malignant tumor worldwide. The molecular mechanism of colorectal carcinogenesis is very complex and not yet fully understood. The TGFβ (transforming growth factor β) signaling pathway plays a significant role in the development of many cancers, including colorectal cancer pathogenesis. Changes in TGFβ pathway are associated with increased colorectal cancer risk, because this pathway participates in the control of important cellular processes such as cell growth, proliferation, differentiation, or apoptosis. The family of SMAD (similar to mother against decapentaplegic) proteins is closely correlated to this pathway. SMADs genes expression affects modulation of the transcription of many genes, which leads to the inhibition of cell-growth and apoptosis in colon epithelial cells. The presence of SNPs (single nucleotide polymorphisms) in SMADs genes encoding proteins involved in the control of biological processes important for the cell may play a significant role in the predisposition to the development of colorectal cancer, or in the regulation of the severity of changes related to tumor growth. Extension of data in this field may provide clinically significant conclusions influencing the implementation of personalized treatment based on specific changes characteristic of a patient with colorectal cancer.