By Beth Anglin, MD, FACS
As more men and women test for hereditary cancer, we learn more about who should test for the BRCA gene and what we can do to decrease future cancer risk among this population.
The National Cancer Institute defines BRCA1 and BRCA2 as human genes belonging to a class of genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer. Pancreatic cancer and melanoma are less well known cancers associated with the BRCA mutations. The gene was discovered during the late 1990s, and insurance companies have come around to the fact that early diagnosis can help prevent breast or ovarian cancers. Almost every insurance carrier, as well as Medicare and Medicaid, covers BRCA testing in appropriate individuals.
What, you may ask, does this have to do with the Jewish community? The National Comprehensive Cancer Network (NCCN), which provides recommendations for cancer screenings and treatments, recommends BRCA testing for any Ashkenazi Jewish individual with a personal or family history of breast cancer at any age; both males and females. We know one out of every 40 Jews has a chance of carrying a BRCA mutation — pretty high odds. The guidelines do not recommend testing all Ashkenazi Jews at this time, but that might change in the future, as many experts believe this broad testing should be done.
Furthermore, NCCN guidelines recommend BRCA testing for any woman under 60 years of age with triple negative breast cancer. Triple negative — estrogen, progesterone and Her 2 — are markers performed during testing. Studies have shown that an Ashkenazi Jew with triple negative breast cancer has a 30 percent chance of a BRCA mutation. That same woman under the age of 50 years has a 50 percent chance of carrying this mutation. If you’re uncertain whether you’ve had triple negative breast cancer, or even if you have concerns about being a BRCA carrier, it’s best to call your physician or oncologist and undergo testing for the BRCA gene.
The good news is that surveillance is keeping up with this issue. Screening for this population involves mammography and MRI. Mammography remains important for those who carry the BRCA gene. as mammograms can find calcifications pointing to very early stages of cancer.
MRIs are another viable option for evaluating those who have a high risk of the cancer (and insurance is quite cooperative in these situations). The MRI is performed six months after the mammogram — in other words, in between mammograms to look for interval cancers. Those uncomfortable with the MRI experience (or who might be concerned about the impact of hormonal cycles on the MRI results) should look into PET mammography, a new imaging test for women who have been diagnosed with breast cancer. The downside of this particular surveillance, however, is that PET mammography is not widely available; there are three PET mammogram locations in Plano, Dallas and Fort Worth.
In addition to advanced surveillance methods, there are also advanced surgery methods to deal with cancer cells. Nipple sparing mastectomy (NSM) allows the safe removal of breast tissue while giving an improved cosmetic appearance. In an NSM procedure, incisions are placed in the fold beneath the breast or at the edge of the areola. There is a low risk of skin or nipple loss. Insurance covers all prophylactic surgery for a BRCA mutation carrier. Reconstruction techniques continue to evolve from implants to one’s own tissue. The downside is that many surgeons aren’t comfortable performing the new technique. Incidentally, NSM shouldn’t be confused with subcutaneous mastectomy. Subcutaneous mastectomies were used in the past for benign issues and were later found not to remove enough breast tissue for cancer risk reduction.
The American Society of Breast Surgeons has begun a multi-institutional registry of women undergoing a NSM. This registry will cover information from cosmetic outcome to oncologic safety. The goal is to follow 1,000 women. The Medical Center of Plano is an IRB approved site for this Nipple Sparing Registry.
In September 2010, the U.S. Congress passed HR 1522, which designated the last week of September as National Hereditary Breast and Ovarian Cancer Week; with Wednesday of that week being dubbed National Previvor Day (“previvors” are those who are survivors of a predisposition to cancer, but haven’t had the disease itself). The week of Sept. 25 was one involving nationwide celebrations as well as awareness of hereditary breast and ovarian cancers. More information on these diseases can be found at www.FacingOurRisk.org.
In conclusion, advances continue in diagnosing and treating hereditary cancer especially as it relates to Ashkenazi Jews. No matter your background, genetics or ancestry, the goal is the prevention or early detection of breast, ovarian, prostate, and pancreatic cancers and melanoma. Increased surveillance can find cancer at small, treatable stages. When surgery is needed or selected, minimally invasive techniques can lead to better outcomes. Even better outcomes are achieved when patients and their families stay informed and connected to their health care providers.
Beth Anglin, M.D.,FACS, specializes in all surgical aspects of breast health. She started a support group for those with the BRCA breast cancer gene and joined FORCE, the national hereditary cancer support group. She has offices in Plano and Frisco.