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This study was undertaken to determine the feasibility of currently available tests to detect ovarian cancer at a curable stage. By studying women at risk for the disease on the basis of their family histories of cancer, we hope to gain insight into the genetics and biologic characteristics of ovarian cancer.Asymptomatic women with a family history of cancer are interviewed by geneticists to obtain accurate pedigree and epidemiologic data. Screening tests including transvaginal ultrasonography, color Doppler imaging, CA 125 measurement, and other investigative biomarkers are performed between cycle days 3 and 8 and repeated biannually.A total of 597 women without symptoms were screened between July 1991 and June 1992. Cystic or complex adnexal masses were detected in 6.2% of patients. A pulsatile index value1.0 was measured in 80% of premenopausal patients and 24% of postmenopausal patients, whereas a resistance index value0.4 occurred in 12% of premenopausal and 3% of postmenopausal patients. A CA 125 level35 U/ml was found in 11.4% of the study participants. To date, one stage IA borderline ovarian tumor and one endometrial carcinoma have been found.Ovarian cancer screening needs to be investigated in a controlled fashion to determine means that will ultimately improve the survival from the disease.

Objective: Our purpose was to report the cancers arising during a familial ovarian cancer screening program and investigate the tumor's clonality and association with BRCA1 and BRCA2 mutations. Study Design: Program participants with a diagnosis of ovarian cancer or peritoneal serous papillary carcinoma were identified and their demographic characteristics, ultrasonographic findings, CA 125 results, operative reports, and pathology slides reviewed. Immunohistochemical analysis of p53 , bcl-2 , HER-2/ neu , and nm23 H1 expression was performed on tumor tissues from multiple metastatic sites, and germline BRCA1 and BRCA2 mutations were identified. Results: Three stage I ovarian cancers and 7 cases of peritoneal serous papillary carcinoma were diagnosed from among 1261 program participants. Ultrasonographic abnormalities triggered surgical exploration in all 3 cases of stage I disease. Elevated levels of CA 125 were the harbinger in 2 of 7 cases of peritoneal serous papillary carcinoma, abnormal ultrasonographic findings prompted diagnosis in 2 of 7 cases, and 3 of 7 women had abdominal symptoms 5, 6, and 16 months after screening. Results of immunohistochemical studies suggested multifocal disease in 5 of 7 patients with peritoneal serous papillary carcinoma. At least 3 of the patients with peritoneal serous papillary carcinoma carry BRCA1 185delAG mutations. Conclusion: Multifocal peritoneal serous papillary carcinoma may be a phenotypic variant of familial ovarian cancer, and screening strategies for these women cannot rely on ultrasonography and CA 125 testing to detect early disease. (Am J Obstet Gynecol 1999;180:917-28.)