Update on small bowel surveillance in hereditary colorectal cancer syndromes

Update on Hereditary Colorectal Cancer.

In the past two decades, significant advances have been made in our understanding of colorectal (CRC) tumors with DNA mismatch (MMR) repair deficiency. The knowledge from molecular and genetic alterations in a variety of clinical conditions has refined the disease terminology and classification. Hereditary non-polyposis colorectal cancer (HNPCC) encompasses a spectrum of conditions that have si...

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)/Lynch Syndrome: Surveillance and Diagnostic strategies

Introduction: Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is an autosomal dominant genetic disease. The disease is caused by a mutation in one of four genes of the DNA mismatch repair system and increases the risk for various cancers, especially the uterine and colon cancers. The prevalence of this disease in the general population is about 1 in 500 and it causes about 2-3...

Surveillance in Hereditary Nonpolyposis Colorectal Cancer Syndrome

Colorectal cancer surveillance in inflammatory bowel diseases

Colorectal cancer development is possibly the most important complication of inflammatory bowel diseases. Colorectal cancer generally develops in long-standing inflammatory bowel diseases. Although previously it was believed that there is higher risk in ulcerative colitis patients, nowadays, it has been shown that the risk for colorectal cancer is almost the same in both Crohn’s disease and ulc...

GREM 1 and POLE variants in hereditary colorectal cancer syndromes

Hereditary factors are thought to play a role in at least one third of patients with colorectal cancer (CRC) but only a limited proportion of these have mutations in known high-penetrant genes. In a relatively large part of patients with a few or multiple colorectal polyps the underlying genetic cause of the disease is still unknown. Using exome sequencing in combination with linkage analyses t...