Key Scientific References

CA: A Cancer Journal for Clinicians - Screening and Surveillance for the Early Detection of Colorectal Cancer and Adenomatous Polyps, 2008: A Joint Guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology

Describes 2008 American Cancer Society colorectal cancer screening guidelines. For the first time, the revised guidelines included stool DNA (sDNA) testing. All three participating organizations strongly recommended that colon cancer prevention should be the primary goal of screening.

Gastroenterology - Analysis of Mutations in DNA Isolated From Plasma and Stool of Colorectal Cancer Patients

Stool DNA and Plasma DNA were examined from patients with colorectal cancer. Altered stool DNA was detected in over 90% of patients, providing a better template for mutation testing than plasma DNA.

Gastroenterology - High Detection Rates of Colorectal Neoplasia by Stool DNA Testing With a Novel Digital Melt Curve Assay

A digital melt curve (DMC) assay was developed to quantify low-abundance altered DNA found in stool samples. The DMC assay could detect as little as 0.1% altered DNA, 90% of tumor samples and 75% of pre-cancerous advanced adenomas. This sensitivity is better than current stool screening methods to detect pre-cancerous adenomas.

Nature Biotechnology - Sensitive Digital Quantification of DNA Methylation in Clinical Samples

Abnormally methylated genes were assessed using the methyl-BEAMing technology. Fewer than one methylated DNA molecule in 5000 unmethylated DNA molecules could be detected. With stool samples, 41% of cancers and 45% of pre-cancerous advanced adenomas were detected. The methyl-BEAMing technology provides digital quantification of rare DNA methylation events and may be used for epigenetic biomarker screening.

Cancer Epidemiol Biomarkers Prev 2007 - Highly Methylated Genes in Colorectal Neoplasia: Implications for Screening

Potential methylated biomarkers for colorectal pre-cancer and cancer were assessed in pre-cancer, cancer and normal tissue. Four genes were shown to be methylated in most colorectal neoplasia, but not in normal tissue. These biomarkers may be used to optimize colorectal cancer screening.

These references are intended to provide information about the clinical guidelines and results of early clinical testing for early versions of the test now being developed. The Exact Sciences test is still in development and is an investigational device.