National DNA Day is April 25. It is a day that is to celebrate the completion of the Human Genome Project in 2003 and the discovery of DNA’s double helical structure 50 years before that, according to the National Institutes of Health. At the Plastic Surgery Center and Institute for Advanced Reconstruction, we care for many patients who have genetic mutations that can cause a wide range of disease. One of the most widely recognized gene mutations is the BRCA gene mutation. This inherited gene entered mainstream culture when Angelina Jolie made public 4 years ago that she had a mutated BRCA-1, in her now-famous New York Times article.
There are two BRCA genes, BRCA-1 and BRCA-2. Having a mutation in either one will predispose a person to increased risk of various types of cancers. Having a BRCA-1 mutation can predispose a person to having a lifetime risk of 80% of developing breast cancer (American Cancer Society website). Breast cancers in women with this gene are found younger and in both breasts compared with those without the gene mutation (American Cancer Society website). The risk is also higher in women with the BRCA-2 mutation, but less than that with BRCA-1 (National Cancer Institute website). Having either of these mutations will also predispose one to ovarian and pancreatic cancer in women and breast and prostate cancer in men (National Cancer Institute website).
So….what can you do about it? First, know your family history! Find out why Grandma Mae died at 45 of some “woman disease.” If you suspect that you may have this gene mutation in your family, speak with your primary care provider to see if you are a candidate for referral to a geneticist for possible genetic testing.
Second, early detection of cancer should be done. The American Cancer Society currently recommends the following:
- Women ages 40 to 44 should be provided the choice to start annual screening mammograms.
- Women ages 45-54 should obtain screening mammograms annually.
- Women ages 55 and older should have mammograms every 2 years or can continue with annual screening.
- Screening should continue as long as a woman is in “good health” and expected to have at least a 10-year life expectancy.
- All women should be performing self-breast exams and having clinical breast exams done by a health-care provider on a regular basis. Women with a predisposition should speak with their primary care doctor about the best screening schedule.
If you are diagnosed with breast cancer, what are the options available to you? It will depend on the size and extent of your tumor/cancer. It is best to be referred to an oncologist to discuss the options available to you. If surgery is given to you as an option, you will want to discuss with your breast surgeon what he/she feels is an appropriate treatment for your stage of disease. Surgery may sometimes be combined with radiation and/or chemotherapy. It is important to bring another person with you to appointments as all the information can be very overwhelming to hear.
Even if you have not been diagnosed with breast cancer, but you have been found to be a carrier of the BRCA mutation, you may elect to have breast tissue removed on both sides preventatively (prophylactic mastectomies). This is a very personal decision and one you will want to discuss with a breast surgeon.
Here at The Plastic Surgery Center and Institute for Advanced Reconstruction, we often see patients referred to us by breast surgeons who are scheduled to undergo a lumpectomy (partial mastectomy or removal of breast tissue) or mastectomy (removal of nearly all breast tissue). If you are removing breast tissue preventatively, you may be able to undergo a nipple-sparing mastectomy. Our plastic surgeons will discuss with you your reconstructive options, based on your body type and medical and surgical history. There are two main categories of reconstruction: autologous (using your own tissue) and implant-based (using saline or silicone implants). There are advantages and disadvantages to both, which can be discussed with you during a consultation with one of our plastic surgeons. All types of reconstruction can yield excellent results. For more information, do not hesitate to call us today to schedule a consultation!