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Tests for the Ovarian Cancer Gene

While cancer of the ovaries is a frightening disease, more women are catching ovarian cancer earlier and responding to developing treatment. According to American Cancer Society statistics, 93 percent of women who catch ovarian cancer in the early stages live for at least 5 years after diagnosis. One tool that has helped doctors pinpoint hereditary forms of ovarian cancer is the BRCA genetic test. Women who have mutations in the BRCA1 and BRCA2 gene are at a much higher risk of developing ovarian (and breast) cancer. Thus, the test gives patients and doctors an important head start in the potential cancer fight.

  1. History

    • In 1994 researchers discovered two specific genes--BRCA1 and BRCA2-- that when mutated often led to breast cancer (Miki et al, Science, 1994 and Wooster et al, Nature, 1995). As the research developed, it turned out that BRCA1 and BRCA2 mutations also led to an increased chance of ovarian cancer. According to a study referred to on the Genetic Health website, a majority of hereditary cases of ovarian cancer may result from the mutated BRCA1 and BRCA 2 genes.

    Who Should Get the Tests

    • Since the incidence of BRCA1 and BRCA2 mutation is extremely low (about 1 in 800 according to Lab Tests Online), not everyone should rush out and get the tests. If you have a relative who has/had breast cancer or ovarian cancer, it is a good idea to get the BRCA1 and BRCA2 test. In addition, if you belong to a group with a high prevalence of BRCA1 and BRCA2 mutation (such as Ashkenazi Jews) you should consider a test. If you have living relatives with cancer, see if they had the mutation and whether it matches your BRCA1 and BRCA2 genes. This will give doctors a good sense of your risks of developing breast and/or ovarian cancer.

    How the Test Works

    • The BRCA test uses a blood sample to determine a genetic profile. The laboratory that prepares the profile will hone in on the BRCA1 and BRCA2 genes and look for any irregularities. If a mutation is found, the mutation will be characterized and the results will go back to your doctor and genetic counselor for further analysis.

    Taking the Test

    • Administration of the BRCA test is as simple as any other blood test. A nurse will take a small sample of blood and send it off to the laboratory for analysis. After 3 to 4 weeks, your doctor will contact you with the results and if necessary, based on the results, suggest further tests to ensure you are cancer-free.

    Intepreting the Test

    • If your test reveals a BRCA mutation, you must have a professional compare the exact mutation profile against your family history and if possible other family members' genetic profiles. The Center for Disease Control estimates that 16 to 60 percent of women with BRCA1 or BRCA2 mutations will develop ovarian cancer. With such a wide range, it's essential to realize that a mutation is not an automatic harbinger of cancer. Your family history will help your doctor determine your risk with more accuracy. Regardless, if you have a BRCA mutation, you must remain vigilant and stay a step ahead of the cancer. Visit a specialist regularly to determine whether you exhibit any pre-cancerous or cancerous symptoms.

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