Top 5 Facts to Know When Considering Genetic Testing for Breast Cancer

I hate cancer.

I hate it more than road trips, potty training, pointless meetings and taxes combined.

It stole two of my grandpas and this week took one of my dearest friend’s mom. It also tried to take my teenage cousin, but with the help of St. Jude’s she kicked its butt.

As a doctor, I’ve seen breast and ovarian cancer steal too many precious women from their families painfully early. October is breast cancer awareness month. We see the pink ribbon so often we sometimes take it for granted, but it is still a disease to be conquered. Fortunately, we do have some newer weapons in our arsenal.

We know that 10% of breast cancer cases are caused by a faulty gene (BRCA) that gets passed down in families. Often, these are the most obnoxious cases: the young mothers with aggressive tumors, dying before their time. Carriers of the gene have a 85% chance of developing breast cancer and a 40% chance of developing ovarian cancer. The test can be performed as a simple blood draw. While it can be expensive, it is now covered by most health insurance companies.

1.Who Should be Tested

People (men included) with the personal or family history of the following should consider BRCA testing:

• Ovarian Cancer
• Male Breast Cancer
• Premenopausal Breast Cancer
• Two relatives with breast cancer
• Triple Negative Breast Cancer

If any of the above describes your family, then you have a 10% chance of testing positive for hereditary breast and ovarian cancer. If the relative that was diagnosed with the cancer is alive, they are the best person to be tested.

2. Treatment Doesn’t Have to be Mastectomy

If you test positive, there are many options for prevention, including but not limited to mastectomy. Up to 60% of women do choose to proceed with mastectomy, reducing their risk of breast cancer by 90%.  Others choose more intense monitoring which includes yearly mammograms and breast MRIs, with twice a year clinical exams. Tamoxifen, a drug used to prevent breast cancer in high risk women, can be an option as well.

3. If the Test is Negative, You Still Need Surveillance

If you have a negative test, you still need annual screenings for breast cancer. Women are recommended to have a breast exam performed by a physician once a year. A mammogram is needed every 1-2 years from age 40-50 and then yearly after age 50. If you have a family history of breast cancer, screening should start when you are 10 younger than age that relative was when diagnosed. Also, breast MRI can be consider if their is a family history of premenopausal breast cancer.

4. Knowledge is Power

Fear can be a monster, but knowledge is power. Knowing you are at risk allows you to do something about cancer and not just worry about the ‘what ifs’. For years there has been concern that genetic testing will cause people to be denied insurance. The opposite is actually true: being a BRCA carrier gets you automatically approved for expensive screening tests and can qualify you for clinical trials.

For the moms out there who are afraid of testing, you have a big reason to consider it: your kids. If you are a carrier, then each of your children has a 50% chance of being a carrier. Knowing your BRCA status can not only help prevent cancer in you, but also your children.

5. The Real  Breakthrough is in the Prevention of Ovarian Cancer

I strongly considered specializing in Gynecological Oncology (treating cancer of the female reproductive tract) except for the fact that I didn’t think I could deal with the long term emotional aspect of having so many patients not survive ovarian cancer. Ovarian cancer is only curable if caught in the early stage, and that very rarely happens.  There is no screening test for early ovarian cancer.

If you test positive for BRCA, then you have a 40% chance of ovarian cancer. Having your ovaries removed (when you are done with them) reduces your risk of ovarian cancer by 90% and also reduces your risk of estrogen dependent breast cancers. BRCA testing has the potential to significantly reduce the occurrence of this fatal disease.

Before your next annual exam, take sometime to investigate your  family history of cancer. Make sure your provider is aware of any first or second degree relatives with breast, ovarian, colon or pancreatic cancer.  Your provider can help you determine what cancer screening protocol is best for you. If they suggest BRCA testing, don’t be fearful. The  information it provides can give you powerful insight to help you avoid some the nastiest cancers around.

 

 

 

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