Breast Cancer Gene: Understand Your Breast Reconstruction Options

By Denise Mann; reviewed by Marisa Weiss, MD

Advances in the screening and early detection of breast cancer mean more options for women at high risk for this cancer. For example, many women who are at increased risk for breast cancer can undergo genetic testing to see if they carry mutations in certain breast cancer genes. Altered copies of the BRCA 1 or 2 gene increase a woman's risk of developing breast and/or ovarian cancer.

The American Cancer Society estimates that there will be 192,370 new cases of invasive breast cancer diagnosed in the United States in 2009. Breast cancer is the second most common cancer among women in the United States, after skin cancer.

Approximately 0.1 to 0.2 percent of the general population carries the BRCA 1 or 2 genetic mutation. For those women with the BRCA1 or BRCA2 mutation, the lifetime risk of developing breast cancer is 40 to 85 percent.

Breast Cancer Testing: Staying Positive about a Positive

The good news is there is something women can do if they do test positive for the breast cancer genes.

A prophylactic mastectomy — surgery to remove one or both breasts — may reduce the risk of developing breast cancer by 90 percent. Some women may also opt for the prophylactic removal of their ovaries to lower their risk of ovarian cancer by up to 90 percent. Removing the ovaries can also reduce a premenopausal woman's risk of getting breast cancer.

Still, electing to undergo a mastectomy when you don't have breast cancer is not an easy decision to make. There are many emotions involved and a lot of soul-searching is often needed.

Breast reconstruction surgery following prophylactic mastectomy can help women restore the look and feel of their breasts after they make this important, potentially life-saving decision. Be sure to have a thorough discussion with your surgeon about what you can expect from breast reconstruction surgery. This should include covering the risks involved, including lymphedema, and what you can do to reduce your risks.

There are other options to reduce breast cancer risk, including anti-estrogen therapies such as tamoxifen. These drugs can be prescribed to women with a family history of breast cancer or other risk factors.

Should You Get Tested for the Breast Cancer Genes?

Currently, there are no standard recommendations about who should get tested for the breast cancer genes. Women who had breast cancer at a very young age — as well as those with a strong family history of breast and/or ovarian cancer — may be referred to genetic counseling to see if they should get tested.

Genetic testing is usually recommended for women with:

  • A male relative with breast cancer
  • A family member who has both breast and ovarian cancer
  • A family member with bilateral breast cancer
  • Family members with ovarian cancer
  • Family members with a positive BRCA1 or BRCA2 genetic test result

A family history of breast or ovarian cancer on the mother or father's side is equally important. Women of Ashkenazi (Eastern European) Jewish ancestry, with or without a family history of breast or ovarian cancer, may also consider genetic counseling.

The Role of Genetic Counseling

It's best to undergo proper genetic counseling prior to genetic testing. Such counseling is an important part of this emotional process.

The counselor will collect a detailed family and medical history, assess your risk of developing cancer and go over the risks and benefits of genetic testing. He or she will also discuss the medical implications of a positive or negative test result, the possibility that a test result might be ambiguous, the psychological risks and benefits of genetic test results and the risk of passing the genes to offspring.

Breast Cancer Gene Testing Cost

The cost of breast cancer gene testing may be another obstacle for some people. BRCA1 and BRCA2 mutation testing costs range from hundreds to thousands of dollars.

Insurance policies vary with regard to whether or not they cover genetic testing for breast cancer genes. If you are considering BRCA1 and BRCA2 mutation testing, inquire as to your insurance company's policies regarding these genetic tests first. Protecting the privacy of your medical information — particularly genetic test results — is important relative to future insurance and employment opportunities.

Breast Reconstruction Options Following Prophylactic Mastectomy

If you test positive and decide to undergo a prophylactic mastectomy, immediate breast reconstruction can usually be performed.

Reconstruction involves several steps, the first of which is to reconstruct the breast mound. Later on, many women also choose to have nipple and areola reconstruction.

Breast reconstruction can be done using a tissue expander, followed by placement of an implant. There are many types and shapes. The most common types of breast implants are saline and silicone breast implants, but there are newer ones made with different materials.

For example, one newer type of breast implant are gummy bear breast implants. These leak-resistant implants are composed of cohesive silicone gel and have the consistency of gummy bears. The gel doesn't migrate, so if the shell should leak, the gel would just stay in one place.

There have been concerns about health problems arising if silicone gel leaks and migrates, but these concerns have largely been allayed. Cohesive gel breast implants are not approved by the Food and Drug Administration (FDA) yet, and are only available through clinical trials.

Another option for breast enhancement surgery following mastectomy is using your own tissue transplanted from your belly, back or buttocks. Sometimes an implant is also needed.

The nipple can be reconstructed with medical tattooing, transplanted tissue or both.

If a woman is not happy with breast reconstruction after mastectomy, a board-certified plastic surgeon can usually improve the result through cosmetic surgery. One option is fat injections for "touch-ups" to improve breast shape and correct implant wrinkling or dimpling. The transfer of tissue may be required to create symmetry and fill in significant indentations. A breast lift to the other breast or adding an implant to the smaller side can sometimes help.

While prophylactic breast removal is very effective, it's not 100 percent effective. Breast cancer can develop in the small amount of tissue that may remain after mastectomy (in the envelope of skin that had surrounded the breast). This means that you and your doctor must develop a customized follow-up plan to monitor and protect your breast and overall health. This may include supervising medications, handling the effects of treatment, careful physical examination, and radiographic and blood testing, every six months.

About the Reviewer of This Article

Marisa Weiss, MD, is the founder and president of the nonprofit organization Breastcancer.org. Dr. Weiss is the Director of Breast Radiation Oncology and Director of Breast Health Outreach at Lankenau Hospital, part of the Main Line Health Hospitals of the Thomas Jefferson University Health System in the Philadelphia area. A leader in her field, Dr. Weiss served on the National Cancer Institute Director's Consumer Liaison Group from 2000 to 2007. She is the author of several books, including Taking Care of Your "Girls": A Breast Health Guide for Girls, Teens and In-Betweens; and Living Beyond Breast Cancer. Click here for more information on breastcancer.org.

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