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BRCA Testing, Prophylactic Mastectomies and You

Ten things to think about when you speak to your doctor

Angelina Jolie’s announcement in the New York Times on May 14 of her prophylactic double mastectomies has women across the country abuzz about what they would do if they were in her shoes – and for those who are, what they are doing or have decided to do for themselves.

Lillie D. Shockney, R,N., B.S., MAS, University Distinguished Service Associate Professor of Breast Cancer and Administrative Director of the Johns Hopkins Breast Center and the Johns Hopkins Cancer Survivorship Programs took some time to provide the following advice to women considering speaking to their physicians about genetic testing or prophylactic mastectomies.

  1. Only about 12 percent of breast cancers today are believed to be caused by the patient having such a gene.  This means that most breast cancers are not related to a known genetic cause.
  2. The BRCA1 gene carries the highest risk of getting breast cancer. Statistically; the risk for carriers is between 40-80 percent.
  3. No one should get genetically tested without having met with a genetics counselor—a real genetic counselor who can review their family tree for three generations and assess other risk factors the patient may have to formally calculate the person’s risk.  For example, if someone has a significant family history and tests negative for a gene this doesn’t guarantee that they don’t have a gene that science simply hasn’t discovered yet, or discovered a way to test for it yet.
  4. If someone has a breast cancer gene, then her children have a 50 percent risk of also carrying the gene.
  5. If a man carries a breast cancer gene his risk of getting breast cancer is only 6 percent; therefore prophylactic mastectomies are not usually advised as being needed or recommended.
  6. BRCA 1, which is the gene Angelina Jolie carries, also has a 40 percent risk of ovarian cancer. There are no reliable methods for getting screened and diagnosed early for ovarian cancer; this is the type of cancer her mother died from. Therefore it actually is more common to see doctors recommend getting fallopian tubes and ovaries out even before a discussion about getting prophylactic mastectomies done. We have better screening for breast cancer.
  7. It is important to realize that having knowledge that you carry a gene has ramifications for your entire family. Are they ready to deal with the news for themselves? For instance, a dysfunctional family can really become more dysfunctional if two sisters who have had sibling rivalry for years now get tested with one being positive and the other negative.  You also have to consider when is the right time to tell your children. I was personally enthused when the breast cancer gene test became available. My daughter was 15 at the time. I fit the profile for likely having a breast cancer gene, as I was diagnosed in my 30s, and developed bilateral breast cancers just two years apart from one another. When I told my daughter I was planning to get tested she said to me, “Mom. Please don’t yet. I want to be a kid for a while longer.” That really gave me perspective. So I told her for her to tell me when she was ready for such news. Shortly after her 21st birthday, she said, “I would now like to know.”   I tested negative; however there remains a good chance I have a gene of some kind based on other factors.
  8. Discuss your reconstruction options. Angelina Jolie did implants and this was likely her only option because she is lean. Most women, however, have some fat on their body they would glad rid themselves of. So such procedures as the DIEP, S-GAP and TUG flaps are good options. I steer women away from TRAM flap, which sacrifices their abdominal muscles. No one needs to lose their abdominal muscles today. I personally have had DIEP flap done, which took my tummy fat but no muscle. It requires no maintenance, looks great, feels great. Implants don’t have a life time warranty. They may need replacing as often as every seven to ten years. Implants appear very perky, which looks appropriate in our youth. When the patient is 85 years old they will still look perky. Flaps have a more natural look and feel.
  9. There is still controversy about whether someone who carries a gene should do nipple/areola sparing mastectomies. Remember this is breast tissue, so some risk remains of still getting breast cancer. By the way, it is virtually impossible to remove every single breast cell within the body. The breast tissue goes up to the collar bone, goes under the arm, and down to the band of the bra. It is not merely the breast mound. Few people realize this. So prophylactic surgery of this type still leaves a 1 to 2 percent risk of still getting breast cancer—a number that a woman can live with, though. However, keep in mind that nipple reconstruction with 3D areola and nipple tattooing is available. If a woman goes to the right person, they have literally have a Memorex version of what was surgically removed to keep her risk down as low as possible.
  10. In summary: Get counseling before testing. Make sure family members are ready to hear the results. Testing negative is no guarantee. Ovaries are also at risk of cancer and are harder to detect the cancer in early. Look at all reconstruction options. Go to breast specialists who are very familiar with doing this type of surgeries and doing them a lot—breast surgical oncologists and breast reconstruction plastic surgeons are experts in all forms of reconstruction, especially the most sophisticated microvascular surgery procedures.