The CPMC Study and Colorectal Cancer

What Does the CPMC Test For?

The CPMC looked for the presence or absence of colorectal cancer variant 1 (rs6983267) in the chromosome 8q24 intergenic region (region between genes).This is one variant out of many that can influence the risk of colorectal cancer. Each individual inherits 2 copies of every variant, 1 from each parent. Below are the possible results for this variant.The CPMC does not test for any form of hereditary colorectal cancer like HNPCC or FAP.

Having one or two copies of the risk variant may increase your risk of colorectal cancer. This result does not cause colorectal cancer and does not confirm a diagnosis of colorectal cancer. Having zero copies of the risk variant does not rule out the risk of developing colorectal cancer in the future.

CPMC Colorectal Cancer Genetic Variant 1 (rs6983267)

The rs6983267 (T>G) variant is found in the intergenic region on chromosome 8q24. This variant has been found to increase the risk of colorectal cancer among Caucasians.

Possible Colorectal Cancer Genetic Variant 1 Results

Result data may not be available for all races or ethnicities. Sample data for Caucasian individuals is shown below.
Result frequencies and genetic variant risk results are obtained from Tomlinson Nature Genetics 2008; 40 (5):623-630.

People with one or two copies of the risk variant (T,G or G,G) are compared to people with no copies of the risk variant (T,T) to determine relative risk. A relative risk greater than 1.0 indicates an increased risk.