Donenberg cautions women, however, that while awareness about the BRCA genes has increased in recent months, breast cancer resulting from a genetic mutation is not common. Approximately 5 to 10 percent of all breast cancer cases stem from a family history. Of those, 30 to 40 percent stem from BRCA 1 and BRCA 2 mutations.
But for those who have a family history, they should get MRIs and mammograms on a regular basis, even if they test negative for the BRCA gene mutations.
They may have another gene mutation, such as RAD51C , which increases the risk for breast and ovarian cancer, and RAD51D, which increases the risk for ovarian cancer. There are up to 15 gene mutations, aside from BRCA 1 and BRCA 2, that increase the risk for breast and/or ovarian cancer, Bodamer said.
Different characteristics of the patients cancer tip off doctors as to which gene mutation they may be carrying, Donenberg said. For example, BRCA 1 gene mutation is usually associated with a triple negative breast cancer, or cancer that is not supported by estrogen, progesterone and HER2 receptors.
But theres a dilemma: The more genes are tested, the likelihood of finding a mutation increases. We sometimes find a variation in the spelling on one gene and it is very hard to interpret that, Donenberg said.
Until recently, Myriad Genetics, a company based in Salt Lake City, held a patent on the BRCA 1 and BRCA 2 testing; all U.S. hospitals and labs had to send genes there for testing. On June 13, the U.S. Supreme Court ruled that human genes cannot be patented, allowing for other laboratories to test for the BRCA mutations. That should drive down the tests cost, which can run up to $4,000.
If a woman is found to carry a genetic mutation, her options include getting a mastectomy, undergoing mammograms and MRIs every six months, and in some cases, taking Tamoxifen, which suppresses estrogen.
For those who carry a mutation that increases the risk of ovarian cancer, removing the ovaries is an option. And since ovarian cancer may arise from the fallopian tubes, some patients consider a procedure that removes the fallopian tubes.
Dr. Mindy Williams, breast surgical oncologist at Memorial Cancer Institute, said there has been an increase in the number of women seeking double mastectomies sometimes unnecessarily. A 2012 University of Michigan Comprehensive Cancer Center study indicated that 70 percent of women who were diagnosed with breast cancer chose to have a double mastectomy even though they did not have a family history or genetic mutations.
Two South Florida women, both with a family history of breast cancer and who carry one of the two BRCA mutations, took different paths.
Estep, the Cooper City mother of two boys, was confident in her decision to have a bilateral mastectomy when she was 31.
Ive never looked back. The double mastectomy was not a difficult decision for me, she said.
She had her ovaries removed two years ago when she was 35. That, she noted, has been more difficult.
Its a daily battle for me, she said, adding that removing her ovaries has contributed to a hormonal imbalance that makes her irritable and disrupts her sleep. But I do feel I will win the war.
Aniela McGuinness, an actress and model who lives in Hollywood in Broward, tested positive for a BRCA 1 mutation three years ago. So far she has relied on mammograms and ultrasounds every six months, as well as transvaginal ultrasounds to monitor her risk for breast and ovarian cancer.
I kind of wanted to live my life as normal as possible while I was in my 20s, said McGuinness, 30, who does not have children.
When she reaches 35, she says she plans to have her ovaries removed. She hasnt decided on whether she will undergo a mastectomy. Removing her ovaries at age 35 decreases her risk of getting breast cancer by as much as 70 percent.
Its not a one-stop shop where everyone gets the same treatment, Donenberg said. A lot of what we see on how women make decisions is family history. We may have a patient saying, My mom died when she was 35, so she is going to equate breast cancer with dying. It really has to do with patients experience and psychology.