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Colorectal cancer

From SNPedia

Numerous SNPs have been reported to be associated with increased risk of developing colorectal cancer (CRC), including:

Some of the SNPs listed above were also associated with colorectal cancer in a study of ~1800 Swedish patients. [PMID 20648012] This same study confirmed association for the following SNPs:

Some SNPs appear to lower the risk of developing colorectal cancer and also to lower the risk of its metastasis:

Other SNPs have been associated with the efficacy of various treatments for 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).