Colorectal cancer
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:
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).
