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Breast Cancer and Genetic Testing

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Should I Be Tested for Genetic Mutations?

You may want to discuss genetic testing with your doctor if any of the following scenarios apply to you:

  • You have two or more blood relatives -- mother, sister, aunt, cousin, or daughter -- with premenopausal breast cancer or ovarian cancer diagnosed at any age.
  • You have been diagnosed with breast cancer, especially if it was diagnosed before you reached menopause, you have a blood relative with breast or ovarian cancer, or if you have cancer in both breasts.
  • You have been diagnosed with ovarian cancer and you have blood relatives who have had ovarian or breast cancer.
  • You are related to someone (male or female) who has a BRCA1 or BRCA2 mutation.
  • You are of Ashkenazi Jewish descent and you have blood relatives who have had breast or ovarian cancer, or you have had breast or ovarian cancer.

 

What Are My Options if I Have a "Cancer Gene?"

Women in high-risk categories (first-degree relative with breast cancer, personal history of breast cancer, prior abnormal breast biopsy results with atypical ductal hyperplasia or lobular hyperplasia or lobular carcinoma in situ) and carriers of the genes associated with breast cancer should consider starting regular breast cancer screening at age 25 or 10 years earlier than the age of the youngest person with breast cancer at the time of their diagnosis.

Some women choose preventive (prophylactic) mastectomy to decrease the chances of developing breast cancer, although this doesn't offer complete protection. Another approach includes using the anti-estrogen drugs:

  • Tamoxifen, useful in premenopausal and post-menopausal women
  • Evista, a drug used to treat osteoporosis; useful only in post-menopausal women
  • Aromasin, an aromatase inhibitor; useful only in post-menopausal women

 

What Are the Potential Problems With Genetic Testing?

Genetic testing is not 100% accurate. If a test is negative, a person still has a chance of developing breast cancer. If the test is positive, there is still a 15% to 20% chance of not developing breast cancer.

Genetic testing is costly, ranging from about $400 to more than $3,000, depending on the type of test. Insurance policies vary in providing coverage for genetic testing.

The results of genetic tests won't be available for several weeks. The length of time it takes to get results depends on the tests performed and under what circumstances they are done.

Genetic testing is highly controversial in society today. Legislation has been enacted to protect individuals who may have a documented genetic risk of developing cancer from employment and/or insurance problems. The best course of action a person can take is to become involved with an established genetic registry that can counsel individuals with a genetic risk for cancer.

What Are the Benefits of Genetic Testing?

For some women, the benefits of genetic testing include the ability to make informed medical and lifestyle decisions while reducing the anxiety of not knowing their genetic background. Another benefit is the ability to make a proactive decision regarding prophylactic surgery. In addition, many women are able to participate in medical research that may in the long run decrease their risk of death from breast cancer.

WebMD Medical Reference

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