full free access-focus on Lynch Syndrome Ultradeep Sequencing of a Human Ultraconserved Region Reveals Somatic and Constitutional Genomic Instability

"Genomic instability is a common trait of cancer cells and plays a pivotal role in promoting carcinogenesis in several hereditary tumours. One of the best-known examples is the Lynch syndrome, an autosomal dominant condition associated with heterozygous mutations in mismatch repair (MMR) genes. During their lifespan, individuals affected by the Lynch syndrome...... The tumourigenic process starts when mutations hit oncogenes and/or tumour suppressors, often in actively renovating tissues such as endometrium, ovary, and colon. In the latter case, the genetic condition is known as hereditary non-polyposis colorectal cancer (HNPCC), which represents the most common form of inherited colorectal cancer.... Since more than 90% of HNPCC show MSI this has become a common diagnostic marker..."