Genetic testing for lynch syndrome, an inherited cancer of the bowel, endometrium, and ovary

Rev Obstet Gynecol. 2012;5(1):42-9.


Genetic screening for the mismatch repair genes found in patients with Lynch syndrome leads to improvements in health outcomes among carriers and members of their family. Clinicians now have a simple and easily employed means of determining if an individual carries the genetic mutations found with Lynch syndrome. This article reviews the background and incidence of Lynch syndrome and presents screening criteria, including the use of Web-based algorithms to estimate the likelihood of an individual having inherited Lynch mutations. Comprehensive management plans based on individual risk and family history plus appropriate preventive measures are recommended. Primary care providers including obstetrician-gynecologists are encouraged to adopt a proactive, evidence-based approach to address patients and their relatives with Lynch syndrome.

Keywords: Cancer screening; Colorectal cancer; Endometrial cancer; Familial cancer; Genetic testing; Hereditary cancer; Lynch syndrome; Ovarian cancer.