rs1126497 is a SNP in the EPCAM gene. It is significantly associated with an increased risk and also an early onset of breast cancer (BC).

The allele ''T'' increases the risk of breast cancer in a dose-dependent response manner (P (trend) < 0.001). Moreover, compared to breast cancer patients carrying the CC genotype, the CT or TT carriers were significantly associated with early breast cancer onset (P = 0.0023) [R]. 

The allele ''T'' increases the risk for invasive disease or metastatic cervical cancer. Compared with the CC genotype, CT genotype had a significantly increased risk of cervical cancer (Crude OR = 1.70; adjusted OR = 1.72), the TT carriers had a further increased risk of cervical cancer (Crude OR = 1.94; adjusted OR = 1.96) [R].

Compared with the CC genotype, the CT+TT genotype was a risk factor for both death (hazard ratio, 1.40; P = 0.040) and recurrence (hazard ratio, 1.34; P = 0.039) of patients with non-small-cell lung cancer (NSCLC) [R].





Parent Gene: EPCAM

Importance: 2
Less common allele: T = 33%
More common allele: C = 67%
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