GENETIC TESTING

Opening up the conversation about BRCA genetic testing

 

Special to The Miami Herald

Jennifer Estep has never been diagnosed with breast or ovarian cancer. Yet, the 37-year-old mother of two has had her breasts and ovaries surgically removed.

Estep, of Cooper City, is one of many women who have had preventive, or prophylactic, surgery after a test showed they carried a genetic mutation that significantly increased their risk of developing breast and ovarian cancer.

Indeed, a study of 2,677 women in nine countries who tested positive for BRCA 1 or BRCA 2 — gene mutations that significantly increase a woman’s risk of developing breast or ovarian cancer — showed that many American women chose to have their breasts or ovaries removed once they learned they carried the genes.

Genetic testing and the BRCA gene mutations were thrust into the spotlight after actress Angelina Jolie revealed in a May 14th op-ed column in The New York Times that she had a preventive double mastectomy because she carried the BRCA 1 mutation. Jolie, 38, like many other BRCA-positive women, has a family history of breast and ovarian cancer. Her mother died in 2007 of ovarian cancer and her aunt recently passed away from breast cancer.

“That genetic test made all the difference in the world for me,’’ Estep said. “Without it, I would be sitting and waiting to get breast cancer.”

Maxine Chang-Chin, a cancer risk assessment counselor at Memorial Healthcare System in Broward, said Jolie’s choice has increased awareness about genetic testing.

“It opens up that conversation. Some patients heard about it and now called and said they want to have genetic testing done,” said Chang-Chin, who said at least five patients called recently to talk about genetic testing. “They are also saying, ‘You know what, I am more comfortable removing my breasts than I was before.’ It’s making them feel more comfortable because Angelina Jolie is young as well.’’

Dr. Olaf Bodamer, medical director at the Dr. John T. Macdonald Foundation Department of Human Genetics at the University of Miami Miller School of Medicine, said his laboratory has been getting a number of calls by women seeking genetic testing.

“I think there was an immediate spike following the story in The New York Times,” Bodamer said.

But, Chang-Chin and Bodamer noted, genetic testing is not for everyone.

Among those who should seek counseling on genetic testing:

• Women with a family history of breast cancer where multiple family members were affected.

•  Women diagnosed with breast cancer at a young age, usually from their 20s to 40s.

•  Women who have ovarian cancer or have a family history of it.

•  Women and men of Ashkenazi Jewish heritage (those with ties to Central and Eastern Europe and Russia), who have a family history of breast or ovarian cancer.

“Someone with a family history with any of those would be an appropriate referral for genetic counseling,” said Talia Donenberg, a board-certified genetic counselor at UM.

BRCA 1 and BRCA 2 mutations increase a woman’s risk for breast cancer by 60 to 80 percent. BRCA 1 mutations increase the risk for ovarian cancer by 30 to 50 percent; BRCA 2 mutations increase the risk by 20 to 30 percent, Donenberg said. In Jolie’s case, doctors estimated she had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer due to BRCA 1. By having the mastectomy, her chances of developing breast cancer dropped to under 5 percent, she wrote.

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 patient’s 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 there’s 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.

“I’ve 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.

“It’s 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 hasn’t 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.

“It’s 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.”

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