Promethease 0.1.82

From SNPedia

Several SNPs have been reported to be associated with increased risk for developing colorectal cancer ("CRC"), including:

• rs6983267, a SNP in the 8q24 region
• rs2273535, a SNP in the AURKA gene
• rs7903146, a SNP originally associated with risk for type-2 diabetes
• rs4779584
• rs6983267
• rs4939827
• rs2273535
• rs1047972
• rs719725
• rs10505477
• Three SNPs in the SMAD7 gene, found in a large (>7,000 cases) study:
  • rs4939827
  • rs12953717
  • rs4464148

Some SNPs have also been found that lower the risk of developing colorectal cancer, along with lowering the odds of metastatic CRC:

• rs2306536, a SNP in the CHFR gene
• rs1049174, a SNP representing a haplotype of the KLRK1 gene
• rs1864010 in the INSR gene, and rs1801278 in the IRS1 gene

Other SNPs have been associated with the efficacy of various treatments CRC:

• Colorectal cancer patients being treated with the chemotherapeutic drug irinotecan are the subject of an FDA approved genetic test designed to assess a SNP in the UGT1A1 gene. Drug dosage guidelines are different for different rs34815109 genotypes.
• rs396991 influences progression-free survival when using cetuximab to treat metastatic CRC
• nejm K-ras Mutations and Benefit from Cetuximab in Advanced Colorectal Cancer

2009 Review: Pharmacogenetics and biomarkers in colorectal cancer.[PMID 19381163]

[PMID 17914568] The Gln/Gln genotype at codon 302 in RAD18 was significantly more frequent in CRC (18.0%) than in the healthy controls (11.5%) (p=0.046). The increased risk was detected in CRC patients with the Gln/Gln genotype (Odds ratio [OR], 2.10; 95% confidence interval [CI], 1.00 to 4.40). When the relationship of the SNP with clinicopathological parameters of CRC was investigated, particularly in the well-differentiated grade and in the lymph node metastasis (N1) CRC patients, significantly higher risks were detected (OR, 7.00; 95% CI, 1.19-41.1 and OR, 3.71; 95% CI, 1.30-10.6, respectively).