Variant rs9929218 Linked with Prognosis of Patients with CRC

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Patients with stage 4 colorectal cancer (CRC) who have the variant rs9929218 at 16q22 (intron 2 of CDH1, encoding E-cadherin) are at an increased risk for worse survival and poor response to chemotherapy, according to an article published online in the journal Clinical Cancer Research.

Initially, the authors analyzed 20 single-nucleotide polymorphism (SNPs) associated with risk of CRC from 14 genome-wide loci and how they affected the prognosis of 2,083 patients with CRC.

Secondly, three SNPs were analyzed from an independent group of 5,552 patients with advanced stage CRC.

Results showed three variants in the training phase were associated with patient survival. However, only one variant (rs9929218) had a significant association in the validation phase.

Patients who were homozygous for the minor allele, especially those with stage 4 cancer (P=2.7 x 10-5), were observed to have worse survival (training phase HR, 1.43; 95% CI: 1.20, 1.71; P=5.8 × 10−5; validation phase; HR, 1.18; 95% CI: 1.01, 1.37; P=3.2 × 10−2; combined HR, 1.28; 95% CI: 1.14, 1.43; P=2.2 × 10−5). 

Furthermore, a significant correlation was observed between the variant rs9929218 and a negative response to chemotherapy (P=3.9 x 10-4).

The study suggests that these findings provide a mechanism underlying rs9929218’s potential in making a patient prognosis.

Four regions in the human genome linked to pancreatic cancer risk have been identified.
Patients with colorectal cancer who have the variant rs9929218 at 16q22 are at an increased risk for worse survival.
Genome-wide association studies have identified numerous loci associated with colorectal cancer risk.

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