rs12953717 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a large study (7,400+ cases) conducted in the UK. The odds ratios show an increased risk for the minor rs12953717(T) allele; the OR for (T;T) homozygotes is 1.37 (CI: 1.25-1.5), and for (C;T) heterozygotes 1.11 (CI: 1.03-1.2), overall p=9x10-12.[PMID 17934461] [PMID 19562778] Wnt antagonist gene polymorphisms and renal cancer

[PMID 19843678] Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort


[PMID 20124488] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7


[PMID 21179028] Replication study of SNP associations for colorectal cancer in Hong Kong Chinese

[PMID 21221812] A risk-associated single nucleotide polymorphism of SMAD7 is common to colorectal, gastric, and lung cancers in a Han Chinese population


[PMID 18231913] Lack of a relationship between the common 18q24 variant rs12953717 and risk of chronic lymphocytic leukemia.


[PMID 18372901] Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.


[PMID 19011631] Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.


[PMID 19155440] Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.


[PMID 19357349] Association of common genetic variants in SMAD7 and risk of colon cancer.


[PMID 19395656] The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.


[PMID 23472153] Association of SMAD7 rs12953717 Polymorphism with Cancer: A Meta-Analysis


[PMID 23560096] Genetic Variations in SMAD7 Are Associated with Colorectal Cancer Risk in the Colon Cancer Family Registry


[PMID 24448986] Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians


[PMID 22848671] Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.


[PMID 25640388] Intronic Polymorphisms of the SMAD7 Gene in Association with Colorectal Cancer


[PMID 26579801] Correlation Between CASC8, SMAD7 Polymorphisms and the Susceptibility to Colorectal Cancer: An Updated Meta-Analysis Based on GWAS Results

rs12953717

Parent Gene: SMAD7

Importance: 1
Less common allele: T = 30%
More common allele: C = 70%
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