Introduction

In the present project we identified and validated a panel of 74 altered CpG islands capable to discriminate colorectal cancers and adenomas from peritumoral and normal mucosa, with very high specificity (100%) and sensitivity (99.9%). Three selected markers were tested and detected through non-invasive techniques, both in cfDNA and in stool DNA, thus allowing an early and sensitive diagnosis using biological matrices (such as faeces and plasma).

Technical features

A study of the methylome of DNA samples extracted from tumor tissue, peritumoral tissue, adenomas and healthy intestinal mucosa, allowed to identify a panel of 74 CpG islands able to discriminate tumor samples with respect to healthy ones. This panel has been tested and validated in several databases available online in over 500 samples, of different ethnic groups. These markers showed very high specificity in discerning between tumor and non-tumor; very high sensitivity; specificity for colon neoplasms and not of other tissues; early diagnostic capacity (been already present in adenomas, early stages of carcinomas); the ability to identify also metastases of colon tumors in other districts and the ability to be traced even in biological matrices (such as faeces and plasma).

Possible Applications

• Screening of at risk populations to prevent CRC;
• Early diagnosis of colorectal neoplasms;
• Screening of subjects at risk for tracing metastasis and minimal residual disease;
• Better definition of CRC prognosis;
• Development of low-cost devices to unveil tumor markers.

Advantages

• Very high sensitivity and specificity of the test;
• Early diagnosis of colorectal neoplasms;
• Traceability of possible metastases and minimal residual disease;
• Markers traceable also by non-invasive methods;
• Excellent potential for large-scale screening.