Colorectal Cancer (CRC) is a complex disease caused by the interaction of genetic, epigenetic and environmental (including microbial) factors. CRC progresses through a gradual accumulation of genetic and epigenetic changes, leading to the transformation of normal colonic mucosa to adenoma, then to invasive carcinoma and finally to metastatic cancer. It is the most frequent cancer and the second leading cause of cancer related deaths in Europe with 212 000 deaths reported in 2008 and with 432 000 new cases described every year in men and women combined, according to data obtained by the International Agency for Research on Cancer (Ferlay J, Shin HR, Bray F, et al. GLOBOCAN 2008). Worldwide, CRC is the third most frequent in incidence and the fourth cause of mortality with approximately 1.2 million cases and 0.6 million deaths accounted annually. In Cyprus there are ~300 new cases of CRC every year.
The gold standard method for the detection of CRC is Colonoscopy. Since Colorectal Cancers are mostly sporadic and more than 90% of CRC cases occur in people 50 years or older, colonoscopy is recommended indiscriminately over the age of 50 and every 5 years thereafter to everybody, but those with a history of colorectal inflammation or cancer. Symptoms used as indicators of colon cancer usually manifest rather advanced stages of disease. These include blood in stools, irregular bowel movement and anaemia. Early detection of the disease permits more effective treatment compare to if CRC is diagnosed in a more advanced stage after symptoms have occurred. Additionally, endoscopic removal of adenomas or adenocarcinomas decreases the incidence of CRC and eliminates the progression to cancer. Apart from Colonoscopy other available tests include Fecal occult blood test, stool DNA test, sigmoidoscopy and double contrast barium enema. Plain film (X-rays) are used to detect the position of the tumor and CT scan is used for imaging the stage of the cancer. However, non of the existing tests is able to provide any information regarding the risk of a healthy-appearing individual to develop colonic neoplasia and that’s what the current project is expected to reveal. Nevertheless, an advanced molecular screening that will indicate early stage cancer or cancer risk is missing and our study aims to provide that.
Inflammatory bowel disease (IBD) is a condition caused by chronic, inflammatory disorders of the small or large intestine. IBDs appear as a consequence of a deregulation of the T-cells mediated immune responses against the intestinal microbiota in genetically susceptible hosts. It is increasingly prevalent in Western countries, and impacts on the patients’ quality of life and the risk for CRC. A number of disorders are classified as IBD, including the most common ones, Crohn’s disease (CD) and ulcerative colitis (UC). CD can occur discontinuously anywhere along the digestive tract and throughout the intestinal wall. It is usually associated with granulomas and can develop fistulas and intestinal stenosis. UC generally affects the large intestine causing inflammation continuously along the colon, and is usually limited to the mucosa. Epidemiological data showed in 2013 that in the United States 1,171,000 people have IBD, 565,000 of which are CD and 593,000 UC patients. In Europe 0.3 % of the population, that is, 2.5–3 million people, suffer from IBD. Of those approximately 1.1 million suffer from CD and 1.5 million from UC. This imposes a substantial public health burden because IBD is usually chronic and cannot be easily treated.