Although many risk factors for endometrial cancer have been identified, screening of high-risk individuals using current technologies could, at best, detect only one-half of all cases of endometrial cancer. Furthermore, no controlled trials were carried out to evaluate the effectiveness of screening for endometrial cancer. Screening for endometrial cancer or its precursors may be justified for certain high-risk women, such as those receiving postmenopausal estrogen therapy without progestins and members of families with hereditary nonpolyposis colorectal cancer (34). Women taking tamoxifen receive no benefit from routine screening with transvaginal ultrasonography or endometrial biopsy (35,36).
Most patients who have endometrial cancer present with abnormal perimenopausal or postmenopausal uterine bleeding early in the development of the disease, when the tumor is still confined to the uterus. Application of an appropriate and accurate diagnostic test in this situation usually results in early diagnosis, timely treatment, and a high cure rate. It is important to recognize that the workup of abnormal uterine bleeding should include endometrial biopsy even in premenopausal patients as 5% are in women under the age of 40.
Most endometrial carcinomas are sporadic, but about 10% of cases have a hereditary basis (37– 41). Two genetic models were described in the development of familial endometrial cancer: HNPCC or Lynch II syndrome and a predisposition for endometrial cancer alone; both are inherited in an autosomal dominant fashion (42). The majority of studies focused on the increased incidence of endometrial cancer associated with Lynch II syndrome, a highly penetrant disorder (80% to 85%) (43). HNPCC or Lynch II syndrome is caused by an inherited mutation in one of the following mismatch repair genes: hMSH2, hMLH1, PMS1, PMS2, or hMSH6 (44–47). The disorder is characterized by early age (average age younger than 45 years) at onset of neoplastic lesions in a variety of tissues, including the colon, uterus, stomach, ureters, ovaries, and skin (43,48,49). The lifetime risk of endometrial cancer in women with Lynch II syndrome is 32% to 60% and the lifetime risk of ovarian cancer is 10% to 12% (50,51). Interestingly, colorectal cancer is less prevalent in women with HNPCC or Lynch II syndrome than in men, whose risk approaches 100%. In a study of 1,763 patients from 50 HNPCC or Lynch II syndrome families in the Finnish Cancer Registry, the cumulative incidence of colorectal cancer in women was 54% by age 70, while the cumulative incidence of endometrial cancer was 60% (11). Although these data appear to support the use of endometrial cancer surveillance strategies for women with Lynch syndrome, a specific algorithm is not defined (50,52). No effective screening method exists for patients at increased risk for ovarian cancer.