Mutations in the BRCA genes give women an elevated risk of developing breast and ovarian cancer — this is known as hereditary breast and ovarian cancer (HBOC) syndrome.
According to the National Cancer Institute, BRCA1 and BRCA2 are tumor suppressor genes: in other words, the code for proteins that help repair damaged DNA, ensuring the stability of cells’ genetic material. Mutations subvert this function, altering cells in such a way that can predispose them to become cancerous. HBOC is an autosomal dominant condition, meaning that offspring can get the disease from only one parent who carries the gene — with a 50 percent risk of inheritance.
One of the more complicated issues facing women with HBOC syndrome is whether or not to have children — and how — given the elevated risk of passing on the BRCA mutations to offspring.
Who Has an Increased Risk of BRCA Gene Inheritance?
The Mayo Clinic provides an extensive list of factors that increase the likelihood for an individual to have a BRCA mutation. Some of these include having a personal or family history of breast cancer diagnosed before age 50, bilateral breast cancer, multiple family members with BRCA-associated cancers, ovarian cancer diagnosed at any age or a male with breast cancer.
The NCI reports that certain populations around the world, including Ashkenazi Jewish, Dutch, Norwegian and Icelandic peoples, also have a higher prevalence of BRCA gene inheritance.
Studies have shown that about 72 percent of women with a BRCA1 mutation and 69 percent of those with a BRCA2 mutation will develop breast cancer by age 80, compared to women in the general population who have a 12 percent risk of developing breast cancer.
For ovarian cancer, 44 percent of women with a BRCA1 mutation and 17 percent of those with a BRCA2 mutation will develop ovarian cancer by age 80, compared to 1.3 percent of those in the general population.
How Can You Manage Risk With HBOC Syndrome?
The U.S. Preventive Services Task Force recommends that primary caregivers screen women who have a personal and/or family history of BRCA-related cancers and refer women with positive screening results for genetic counseling and if indicated after counseling, genetic testing. The NCI also recommends that any available family members who have been diagnosed with BRCA-related cancer get tested first since he or she is most likely to carry the mutation. These tests are recommended only for adults over age 18 because of the lack of risk reduction strategies for children under 18.
People who have a positive BRCA gene inheritance result can follow several risk management strategies to help prevent the onset of cancer. The National Comprehensive Cancer Network (NCCN) recommends women with a confirmed BRCA mutation get clinical breast exams every 6-12 months starting at age 25, along with an annual mammogram and breast MRI.
Some women may also choose to undergo risk-reducing surgery, such as removal of the breast (prophylactic mastectomy) or both ovaries and fallopian tubes (prophylactic salpingo-oophorectomy). Some may also benefit from taking medication, namely tamoxifen, which blocks estrogen’s cancer-causing effects in breast tissue.
What Are Reproductive Options With HBOC Syndrome?
Before (and after) undergoing a genetic test, it is recommended that people at risk for the BRCA mutations see a genetic counselor. The counseling will generally include a risk assessment, discussion of the medical implications of positive (or negative) test results and the risk of passing on the mutation to future children.
Genetic counselors who specialize in fertility can also discuss egg freezing, donor egg, surrogacy, and preimplantation genetic testing (PGT). Men or women with HBOC syndrome should be presented the option of reducing the chances of passing on the BRCA gene to their offspring with PGT.
Many women with HBOC elect to have a prophylactic salpingo-oophorectomy, which eliminates the option of a natural conception. While some woman may chose to have a child at a younger age prior to surgery, women who want to delay having children may want to consider egg or embryo freezing, with embryo transfer at a later time via IVF.
Support groups can also become an important resource for women with HBOC syndrome. Several groups provide support, advocacy, and information on topics such as clinical trials, research, risk management, fertility and family planning. Some of these groups include FORCE, which stands for Facing Our Risk of Cancer Empowered; HBOC Society; Sharsheret, Bright Pink; and the Kamie K. Preston Hereditary Cancer Foundation.
Kristine Crane is a freelance writer based in Gainesville, Florida. She was previously a health reporter at U.S. News & World Report. She won the Sunshine State Award for health reporting in Florida in 2014. She holds a Master’s in science reporting from the Columbia School of Journalism and a Masters of Fine Arts in writing from Pacific University.