In a heartfelt column in the New York Times, actress Angelina Jolie spoke out about her decision to have a prophylactic double mastectomy in order to significantly reduce her chances of developing breast cancer. Ovarian cancer took her mother at the age of 56 and was a constant threat looming in the distance for the star, so she wanted to do something to take control of her future and reduce her own odds
Jolie’s first step was to undergo genetic testing to see if she, in fact, had the gene mutation that increases a person’s risk of developing breast cancer significantly—sometimes by as much as 90 percent.
Genetic Testing and Breast Cancer
Now, you may be thinking, ‘sure, she’s a celebrity, she has access to the best medical care -, what can I do if I’m worried about my risk?’ “The genetic testing that Angelina Jolie underwent is the same that we offer to women here in Central Texas,” said Maria A. Blazo, MD, a geneticist with Scott & White.
During a visit with a genetic counselor, the patient is asked about family history and other factors that could qualify them for the testing. If the patient is determined to be a good candidate for genetic testing, then they are asked to provide a sample of saliva or blood. Both are effective in collecting DNA.
“I usually educate patients during their first visit, and they can go home to talk to their spouse or family,” said Cassandra Connerty, PA-C, a physician assistant who started the High Risk Breast Clinic at Scott & White – Round Rock. “It’s a big thing. You have to ask yourself ‘do I really want to know and, if I do have the gene, am I going to want to do something about it?’ I talk to them upfront, and a lot of them still want to go through with the testing.”
The test is specifically looking for the BRCA1 or the BRCA2 gene mutation that makes a woman’s risk of developing breast and ovarian cancer higher than the average person.
“We all carry these BRCA genes in our body, but about 1 in 800 women in the general population carry a mutation in one of those genes,” Dr. Blazo said. “It’s the mutation we’re looking for, not just the gene.”
While surgery is sometimes the first thought that springs to mind when a patient tests positive for one of these gene mutations, it is not the only option available to women.
“One of the other options is surveillance through mammography,” Dr. Blazo said. “For women who have a BRCA mutation, mammographies and breast MRIs should begin at the age of 25..”
Another method of monitoring at-risk patients is through chemotherapy prevention.
Scott & White internist Kathy Kimmey, MD, helps patients decide if drug therapy to prevent cancer is the right option for them.
“We provide counseling and management with drugs, such as Tamoxifen, that have been proven to reduce the chance of breast cancer in high-risk patients.”
But, Connerty, who sees dozens of women at the High Risk Breast Clinic at Scott & White – Round Rock each month, said that most women who test positive for one of the high-risk genetic mutations, choose to have a double prophylactic mastectomy.
“The average number of women who choose a double mastectomy is high,” she said. “They get nervous and want to get it taken care of.”
“The surgery includes removing most of the breast tissue from the chest wall,” said Roger A. Smith, MD, a surgeon with the High Risk Breast Clinic team at Scott & White – Round Rock, who has performed many of these surgeries over the last few years.
“Having a prophylactic mastectomy reduces [the patient’s] risk of developing breast cancer by as much as 90 percent,” Dr. Smith said. “That translates into a less than five percent chance of getting breast cancer throughout her lifetime. The reason it is never going to be zero, is that no surgeon can remove every single breast cell on the chest wall.”
But for women who have one of the BRCA mutations, who can have up to an 80 percent risk of developing breast cancer, the surgery reduces their chances significantly.
Although surgery can sometimes seem like the best option, choosing to have a prophylactic mastectomy is a very personal choice that must come from careful consideration.
“Every woman is entitled to determine if it is the right choice for her,” Dr. Smith said.
In Central Texas, specialists, oncologists, pathologists, radiologists and surgeons work together as an integrated team to closely monitor each at-risk patient and provide the best care possible.
“We have a multi-disciplinary breast team who gets together and discusses each new breast cancer patient as a team,” Connerty said. “We discuss the latest recommendations and how to treat them. We’re all like-minded in what we think is best for the patient. That’s what you want out of a breast center. You want a group to take the time and the energy to serve each individual patient.”