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Should I be tested for breast cancer genes?

BRCA1 and BRCA2 are shorthand for BReast CAncer gene 1 and BReast CAncer gene 2. These are genes that everyone has. Genes are the blueprint for life. They determine what your body will look like and how it will work. They also determine whether you might get certain diseases. Genes come in pairs, one from your mother and one from your father. That is why the health problems that blood relatives have on both sides of your family put you at risk for some diseases, like breast cancer or ovarian cancer.

When they work the way they should, BRCA1 and BRCA2 help protect your body from cancer. But if there is a mistake in one of these genes, it does not work as it should. Then, instead of protecting you from breast cancer, it raises your risk of getting breast cancer. These mistakes are called mutations.

Not everyone who has a mutated BRCA1 or BRC2 gene gets breast or ovarian cancer. Right now, we are not sure why some women do and some women don’t.  

Who should be tested?

Mutations in BRCA1 and BRCA2 are seen in only 2% to 3% of all breast cancers. So most women do not need to be tested for these mutations. But you should talk to your physician assistant (PA) or doctor about being tested if any of your blood relative has had

• A positive result on a test for a BRCA1 or BRCA2 mutation
• Breast cancer that was found before the age of 50 years
• Breast cancer that was found in both breasts
• Breast cancer that returned but was of a different type
• Breast cancer in a male relative
• Breast cancer in a close family member and you are of Ashkenazi-Jewish heritage.
• Other factors can also put you at higher risk. These include having more than one relative with breast cancer and having both ovarian and breast cancer in your family. 

What are the pros and cons of being tested?

The biggest concern is that the test result is not always 100% right. So your test result could be negative and you could still have the gene mutation. Or your result could be positive and you might not really have the mutation. Your PA or doctor will discuss all of the pros and cons with you to help you decide whether to have the test done.

He or she might also ask you to see a genetic counselor before having the test done. A genetic counselor is a person specially trained to discuss the pros and cons of testing for any genetic abnormality. A counselor can help you decide whether genetic testing is right for you.

How can I lower my risk of breast cancer?

Being tested for the BRCA1 and BRCA2 mutations is not the only way to fight breast cancer. There are also ways to find breast cancer early, when it is easiest to cure.

First, know the risk factors for breast cancer. Some of them cannot be changed. However, you should let your PA or doctor know that you have them. He or she might want to start checking you for breast cancer sooner or more often than is usually done.

These are the risk factors that cannot be changed:

• Being a woman
• Getting older
• Having a blood relative with breast cancer
• Already having breast cancer yourself
• Having a breast biopsy that was negative for cancer but still not “normal”
• Starting your periods before the age of 12 years
• Going through menopause after age 55 years
• Taking a drug called DES while pregnant (You or your mom may have taken this between 1940 and 1970 to keep from losing the baby. DES stands for diethylstilbestrol.)
• Having radiation treatment to the chest.

You can change these risk factors:

• Drinking alcohol
• Being overweight or fat
• Eating lots of foods that are high in fats
• Not exercising regularly
• Smoking cigarettes
• Not breast feeding your babies
• Never having children
• Having your first child after age 30 years

If you want to discuss any of these with your PA or doctor, he or she will be glad to help.

There are some things you can do to increase the chance that breast cancer will be found early. You can

• Examine your breasts every month starting when you are 20 years old. If you do not know how to do one, ask your PA or doctor to show you how. If you find any changes when you perform an exam, make an appointment right away to see your PA or doctor.
• Have your PA or doctor examine your breasts every year if you are older than 40. If you are 20 to 40 years old, this exam should be done at least every 3 years.
• Have a breast x-ray (mammogram) every year after you are 40. Mammograms can find breast cancers up to 2 years before you can feel a mass.

Finally, talk to your PA or doctor about any concern you have about breast cancer. He or she is there to help you.