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HealthFix: Breast Cancer Risks and Genetic Testing

Posted at 12:26 PM, Sep 19, 2014


BRCA Genetic Testing for Breast Cancer: Are you a candidate?

In some women, abnormalities in two genes – BRCA1 and BRCA2 – have been linked to the increased risk of breast cancer. A gene can develop a mutation that changes the way the cells function and grow. In normal BRCA gene function, proteins are created to help prevent cells from growing abnormally, with such abnormalities commonly leading to cancer. Women with inherited mutations, from either parent, in one of the BRCA genes, have up to an 85% chance of developing breast cancer in their lifetime. It is important to note, however, that not all women who carry these genes will develop cancer.

What is BRCA genetic testing and what to expect?

After speaking with your health care provider and determining if you are an appropriate candidate for genetic testing, your family pedigree will be analyzed for any inherited diseases within your family. Then, a blood test will be performed to determine if you have a known breast cancer gene. A negative genetic test indicated that a BRCA gene mutation was not identified. A positive test result means that a known mutation was identified, which can help you and your physician make informed and proactive medical decisions. Having a negative gene does not mean you have NO risk of breast cancer – if you have a family history, you are still at higher risk.

Who should consider genetic testing?

Women who:

- have two or more blood relatives with premenopausal breast or ovarian cancer

- have been diagnosed with breast cancer, especially a diagnosis before menopause

- are related to someone (male or female) with a BRCA1 or BRCA2 mutation

What are the options if a positive genetic test comes back?

- Women in high-risk categories and carriers of the BRCA genes should consider regular breast cancer screenings at age 25

- The use of anti-estrogen drugs to reduce your risk of getting cancer

- Risk reduction mastectomy