Abstract
Patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer: HNPCC), Cowden syndrome (CS) and Peutz-Jeghers syndrome (PJS), which are all hereditary diseases, have a higher risk for endometrial cancer than the general population. Elucidation of the oncogenic mechanism of hereditary endometrial cancer is also important for understanding the oncogenesis and characteristics of sporadic endometrial cancer. The risk of endometrial cancer throughout life is high in female patients with Lynch syndrome and occurs in 40% to 60% of cases. The Amsterdam II Criteria (AC II) are used for clinical diagnosis of Lynch syndrome. However, cases of Lynch syndrome-related endometrial cancer that do not meet these criteria (cryptic Lynch syndrome) have been described. Therefore, patients with a suspected hereditary predisposition for endometrial cancer, including juvenile-onset and double cancer, should undergo genetic tests, in addition to an evaluation of family history.
