What is the role of serum CA 125 testing in early detection of hereditary syndromes?

Updated: Jan 10, 2020
  • Author: Gentry George T King, MD; Chief Editor: Eric B Staros, MD  more...
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At present, no randomized data support routine screening in the general population for ovarian cancer, and no professional society recommends using CA 125 for routine screening. However, several societies suggest using CA 125 for early detection in high-risk patients, such as those with a genetic predisposition for hereditary ovarian cancer syndromes. [16]

Individuals with a deleterious mutation in the genes BRCA1 or BRCA2 are qualified as having hereditary breast and ovarian cancer syndrome (HBOCS). In these women, the lifetime risk of developing ovarian cancer ranges from 11% to as high as 62% in some series. [17, 18]

In patients with HBCOS who have not elected to undergo salpingo-oophorectomy as primary prevention, the NCCN recommends considering concurrent transvaginal ultrasonography (TVUS) and CA 125 measurements every 6 months starting at age 30 years or 5-10 years before the earliest age of first diagnosis of ovarian cancer in the family. [14]

A National Institutes of Health (NIH) consensus panel also recommends annual CA 125 measurements in addition to pelvic examinations and TVUS among women with HBCOS, who have an estimated lifetime risk of 40% of developing ovarian cancer. [19]

Lastly, the NCCN also recognizes that concurrent CA 125 and TVUS may also be helpful in early detection in patients with hereditary nonpolyposis colorectal cancer or Lynch syndrome, at the clinician’s discretion. [20]

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