Related Experiment Video
Updated: Jun 9, 2025

Competing-Risk Nomogram for Predicting Cancer-Specific Survival in Multiple Primary Colorectal Cancer Patients after Surgery
Published on: September 27, 2024
Impact of Suppressor of Mothers Against Decapentaplegic (SMAD) 7 Gene Single Nucleotide Polymorphisms on Colorectal
Maurício Peixoto1, Marta Viana-Pereira1,2, Maria Júlia Amorim1
1Medical Oncology, Unidade Local de Saúde de Braga, Braga, PRT.
Abstract:
Colorectal cancer (CRC) is a prevalent diagnosis worldwide with significant associated mortality. Single nucleotide polymorphic (SNP) variants have been identified as being associated with CRC risk. Although SMAD7 SNPs have been associated with the risk of developing CRC, their prognostic effect is still unclear. We carried out a case-control study to establish an association between genotypes of the suppressor of mothers against decapentaplegic (SMAD) 7 SNP rs4464148, rs4939827, and rs12953717 and CRC risk. Furthermore, we retrospectively assessed whether these SNPs had prognostic implications in CRC patients by evaluating survival with Kaplan-Meier curves and Cox regression. Only the CT genotype of the rs4939827 variant showed an association with CRC risk, and no genotype (CC, CT, or TT) of any of the three SNPs was shown to have prognostic implications in overall survival. Our study failed to show an association between certain SNP genotypes and the risk of CRC, which has already been well documented in two meta-analyses. Furthermore, it showed no prognostic relevance for these SNPs. More studies are needed to understand whether there are population variations or haplotype effects that could disturb the evaluation of these results.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Pleiotropy
Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...

