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Q&A: Genetic Testing

with Susan Pories, MD

Susan Pories, MDSusan Pories, MD, Medical Director Hoffman Breast Center

1. What are the names of the genes that can mutate to increase a women’s risk for Breast Cancer?

The most important genes are the breast cancer genes, called BRCA1 and BRCA2. Other genes can also be involved, but are less common.

2. How do I know if I should I be tested for these genes? Who else in my family should be tested?

Not everyone needs to be tested for cancer genes, but if you have a strong family history of breast or ovarian cancer, then you should consult a genetics counselor.

Some of the red flags for a gene mutation include breast cancer at a young age, ovarian cancer or cancer in both breasts. Additional indicators of a possible gene mutation include Ashkenazi Jewish ancestry, breast cancer in men, triple negative breast cancers, or known gene mutations in a relative.

The best approach is usually to test the family members who have already had breast or ovarian cancer. If they test positive, then other members of the family should be tested. If they test negative, then testing of other family members may not be necessary.

3. Can the men in my family have these genes too?

Yes men can inherit these genes and pass them on to their children.

4. How long does it take to receive the results of tests and are they expensive?

Genetic testing usually takes several weeks. The cost is usually paid by insurance but the price has come down considerably. If finances are an issue our genetics team will usually be able to help find a less expensive option.

5. What happens if I test positive? Will I get cancer?

A positive test does not mean you will get breast cancer but it does mean your risk is higher than normal.

If the test is positive for BRCA1 or BRCA2, your doctor will discuss the choices of close monitoring or preventive surgery.

6. What else can I do to lower my risk of breast cancer?

The breast cancer genes are only responsible for 5-10% of all breast cancers. The biggest risk factor for developing breast cancer is being a woman; men can get breast cancer too but it is much less common in men. The second most important risk factor is getting older; the risk increases as we age.

Obesity and a sedentary life style are also important risk factors for developing breast cancer. Women can lower their risk by losing weight and increasing exercise. Another risk factor is drinking alcohol. Alcohol increases the estrogen output from the liver. Most breast cancers are estrogen related so keeping drinking to a minimum (3-5 drinks/week) is recommended. Avoiding estrogen supplements is also a good idea.

Cancer Genetics and Prevention Program at Mount Auburn Hospital

Our Cancer Genetics and Prevention Program was recognized for Best Practices by the National Accreditation Program for Breast Centers (NAPBC). The program is lead by Director, Prudence Lam, MD, and joined by Nancy Slate, RN. 

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