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Clinical Management of BRCA Mutation Carriers


Level of evidence: 3aii

Ovarian cancer


Refer to the PDQ summary on Ovarian Cancer Screening for information on screening in the general population and to the PDQ summary Levels of Evidence for Cancer Genetics Studies for information on levels of evidence related to screening and prevention. The latter also outlines the five requirements that must be met before it is considered appropriate to screen for a particular medical condition as part of routine medical practice.

Clinical examination

In the general population, clinical examination of the ovaries has neither the specificity nor the sensitivity to reliably identify early ovarian cancer. No data exist regarding the benefit of clinical examination of the ovaries (bimanual pelvic examination) in women at inherited risk of ovarian cancer.

Level of evidence: None assigned

Transvaginal ultrasound

In the general population, transvaginal ultrasound (TVUS) appears to be superior to transabdominal ultrasound in the preoperative diagnosis of adnexal masses. Both techniques have lower specificity in premenopausal women than in postmenopausal women, due to the cyclic menstrual changes in premenopausal ovaries (e.g., transient corpus luteum cysts) that can cause difficulty in interpretation. A screening trial of TVUS in 25,327 asymptomatic women aged 50 years or older or aged 25 years or older and with a family history of ovarian cancer in a first- or second-degree relative was reported. Of these, 364 (1.4%) women had persistent ovarian abnormalities and underwent surgery. Approximately 88% (320 of 364) of the lesions were benign. Thirty-five women had primary invasive ovarian cancer, nine had low malignant potential tumors, and seven had cancers that were metastatic to the contralateral ovary.[115]

Data are limited regarding the potential benefit of TVUS in screening women at inherited risk of ovarian cancer. A number of retrospective studies have reported experience with ovarian cancer screening in high-risk women using TVUS with or without CA 125.[7,116,117,118,119,120,121,122,123,124,125,126] However, there is little uniformity in the definition of high-risk criteria and compliance with screening, and in whether cancers detected were incident or prevalent. One of the largest reported studies included 888 BRCA1/BRCA2 mutation carriers who were screened annually with TVUS and CA 125. Ten women developed ovarian cancer; five of the ten developed interval cancers after normal screening results within 3 to 10 months before diagnosis. Five of the ten ovarian cancers were screen-detected incident cases, which had normal screening results within 6 to 14 months before diagnosis. Of these five cases, four were stage IIIB or IV.[116]

A similar study reported the results of annual TVUS and CA 125 in a cohort of 312 high-risk women (152 BRCA1/BRCA2 mutation carriers).[118] Of the four cancers that were detected due to abnormal TVUS and CA 125, all four patients were symptomatic, and three had advanced-stage disease. Annual screening of BRCA1/BRCA2 mutation carriers with pelvic ultrasound, TVUS, and CA 125 failed to detect early-stage ovarian cancer among 241 BRCA1/BRCA2 mutation carriers in a study from the Netherlands.[127] Three cancers were detected over the course of the study, all advanced stage IIIC disease.[127] Finally, a study of 1,100 moderate- and high-risk women who underwent annual TVUS and CA 125 reported that ten of 13 ovarian tumors were detected due to screening. Only five of ten were stage I or II.[117] There are limited data related to the efficacy of semiannual screening with TVUS and CA 125.[7,125]


WebMD Public Information from the National Cancer Institute

Last Updated: May 16, 2012
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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