Clinical relevance of hereditary endometrial cancer

MSH6, and PMS2, and the microsatellite instability assay may be helpful prior to performing genetic testing for Lynch syndrome. INTRODUCTION In 2008, there will be an estimated 40,100 cases of endometrial cancer and 7470 deaths from the disease in the United States (1). The majority of endometrial cancers are due to obesity. Approximately 5% of all endometrial cancers are due to a hereditary disposition (2). The most common hereditary syndrome related to endometrial cancer is Lynch syndrome or hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. Less commonly, endometrial cancer is seen in individuals with Cowden syndrome (see chap. 15). While much attention on hereditary gynecologic cancers has been focused on BRCA1-and BRCA2- related ovarian cancer, Lynch syndrome-associated endometrial cancer is also important for the gynecologic oncologist and gynecologist. There are two key reasons to identify women with endometrial cancer as having Lynch syndrome. First, women with endometrial cancer and Lynch syndrome have a high risk of developing a second cancer, i.e., a synchronous or metachronous colon cancer. These women should be offered screening colonoscopy, which has been shown to be effective in the prevention and early detection of colon cancer (3). Second, clinical genetic testing is available for these women. Once, a Lynch syndrome- associated mutation is identified, unaffected family members can then undergo predictive genetic testing. This chapter will highlight characteristics or red flags for clinicians to use to identify women with endometrial cancer as possibly having Lynch syndrome.