Lynch Syndrome: Approach from the Gastroenterologist’s Point of View

Abstract

"Colorectal cancer is one of the main causes of death by cancer in the European Union and in Romania. Lynch Syndrome is an autosomal dominant inherited disease that affects around 3% of all colorectal cancer patients, defined by mutations in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2). Aside from the high risk for colorectal cancer (CRC), they exhibit a high risk for endometrial cancer, ovarian cancer, gastric cancer, pancreatic cancer, brain cancer, small bowel cancer, and sebaceous gland cancer. Diagnosis is often made by the gastroenterologist, usually when he meets a young patient with symptoms suggesting the presence of a colonic tumor and a family history of CRC. The role of the gastroenterologist is to investigate the best practices in order to have an early diagnosis and to prevent interval cancers according to the newest guidelines or other gastrointestinal tract tumors associated with Lynch Syndrome. Registries play an important role in the optimal surveillance of these particular categories of patients and should be put into place in every country. They will allow clinicians to have a better understanding of the disease and a more standardized quality of care for them."