Hereditary Endometrial Cancer: Lynch Syndrome

Abstract

Lynch syndrome (hereditary nonpolyposis colo- rectal cancer (HNPCC)), Cowden syndrome (CS), and Peutz-Jeghers syndrome (PJS) are hereditary diseases with an increased risk for endometrial cancer. Lynch syndrome is the most frequent disease associated with hereditary endo- metrial cancer. Lynch syndrome is autosomal dominant disorder caused by germ-cell mutation of DNA mismatch repair genes. Patients with Lynch syndrome have a higher risk of endometrial cancer compared with the general pop- ulation. Thus, these patients and their families may develop malignant tumors, including colon and endometrial cancers. The lifetime risk of endometrial cancer in females with Lynch syndrome is particularly high (28-60 %). Lynch syndrome is a typical hereditary tumor associated with en- dometrial cancer, and elucidation of the oncogenic mecha- nism is important to understand the characteristics of endometrial cancer, including sporadic endometrial cancer. The Amsterdam II Criteria are used for screening for Lynch syndrome, but some cases of hereditary endometrial cancer do not meet these criteria (masked Lynch syndrome); there- fore, patients with a suspected hereditary predisposition, including juvenile-onset and double cancer, should undergo genetic tests in addition to taking of a family history.