The Breast Cancer Gene
Find out how testing for the BRCA gene is leading women to make extreme choices for themselves and their families.
Actress Angelina Jolie's announcement in May that she had radical surgery to prevent breast cancer has opened up potentially life-saving conversations about treatment.
Jolie surprised the world with a "New York Times" essay that described the reconstructive double mastectomy she'd had in the spring after learning she was a carrier of BRCA1, a mutated gene that can cause breast cancer or ovarian cancer. She encouraged women with family histories of breast cancer to seek information that could help them.
"Because of the celebrities, more women are open to talking about the surgeries," says Cécile Skrzynia, a UNC-Chapel Hill associate professor and director of cancer and adult genetic counseling in the school's departments of medicine and genetics. "I think that even people who think that prophylactic surgery is horrible and a mutation and cannot fathom this, they ask questions and they didn't before."
The BRCA1 gene mutation was discovered 18 years ago, and researchers found BRCA2 about 18 months later. Genetic testing, which requires a blood or saliva sample, isolates and analyzes genes to determine whether they have the mutation that increases the likelihood of breast cancer.
Skrzynia tells clients who test negative for the gene mutation that the test is time well-spent because it increases education, eases anxiety and spreads the word that genetic testing and counseling are beneficial for anyone who is concerned about their risk.
For those who receive positive results, the implications can be far-reaching.
The professional advice and counseling about next steps can be personal and specific to the age of the patient. A 20-year-old with no children may make different choices than a 40-year-old who has completed her family or a 60-year-old who is less worried about risk.
"The discussion is really different because for those different ages and situations; you have to adjust to what is the priority," says Skrzynia.
All carriers of the mutated genes, no matter what their age, have an increased risk for more than one breast cancer.
Right now, Skrzynia recommends that women who test positive for the mutated gene and are finished having children consider removing their ovaries and fallopian tubes because there is no good screening for ovarian cancer.
Before recommending genetic testing, Skrzynia talks with clients about their family histories. She asks about who has been diagnosed with breast and ovarian cancer, what age the cancer was detected, and whether that cancer was in one or both breasts.
"We tend to worry about cancer, and in general overestimate the risk," says Skrzynia "When we had an aunt who had breast cancer at age 70, we think we may be at high risk, but it's not the case if there are no other factors in the family tree that indicate risk."
Genetic testing is typically conducted on people 18 and older, and can show whether a woman carries BRCA1 or BRCA2, the most common gene mutations that indicate a high risk of breast cancer. In families that carry the gene, patterns often emerge as grandmothers, mothers, aunts, cousins and daughters are diagnosed.
La Chandra Chavis, 38, who lives in Creedmoor, received her first diagnosis 10 years ago. Her grandmother, mother and sister also had breast cancer, and her mother died at age 53 from cancer.
Because so many women in Chavis' family were being diagnosed with breast cancer, doctors asked them to take the genetic test. Results showed that though each woman's cancer had a different cause, each carried the BRCA1 gene mutation.
Like many carriers of the cancer gene mutation, Chavis, who has a 17-year-old son, received another cancer diagnosis years after her first. She had opted for a total hysterectomy in her 20s along with chemotherapy and radiation, and she decided to have a double masectomy after her recent second diagnosis.
Mastectomies can significantly reduce the chances of breast or ovarian cancer for the first time or a recurring time. Another alternative is to have breast tissue removed and use implants to reconstruct breasts instead of completely removing them.
"I wanted to live more than I wanted breasts," says Chavis. "I was confident in the Lord. I'm glad I made the decision."
Jennifer Skinner of Charlotte also comes from a family with a history of breast cancer, and her mother had her first mastectomy when Skinner was 30.
"It's a very shocking thing to go through, even as a daughter, to see your mother have a double mastectomy," says Skinner. "She chose not to do the reconstruction, but she felt at her age there were too many cons verses the pro of having fake breasts."
Skinner's grandmother and great-aunt died of breast cancer, and her mother was diagnosed with it three times. Her mother was tested for the breast cancer gene in the 1990s but the test came back negative.
She later was retested and learned that the first test had been a false negative. She and Skinner's aunt were found to have the gene mutation.
Skinner, who is 35, has tested negative for the gene, but she is vigilant about testing and checking for signs of cancer and about staying healthy.
"I do worry," she says. "Because it was a false negative for my mom, I choose to get tested regularly. Just to be on the safe side, I have mammograms every year."
The United States Preventive Services Task Force recommends that women between ages 50 and 74 get a mammogram every two years, and younger women should talk to their doctors about when to start getting the tests.
Skinner, who has daughters ages 4 and 10, says she is glad she has not had to make the choice to have a preventive mastectomy.
"If I actually had the gene, I don't know," she says. "I wouldn't want to run the risk of not being here for my kids. I'm grateful to God every day that I don't have to make that decision."
Stacy Nam, 24, still weighs the possibilities of radical surgery. Her mother and sister have been diagnosed with breast cancer, and in the spring Nam tested positive for the BRCA1 gene mutation.
She's taking the next few months to think about all of her options, but she's already decided to have quarterly screenings, which will include a mammogram, breast MRI or clinical breast screening. Nam's sister, who is in her 20s, opted to have a prophylactic mastectomy as part of her breast cancer treatment.
Nam, who lives in Charlotte and is not married, said that for now she's not planning to ever have biological children. The positive BRCA1 test factored into her choice.
"It will relieve my worry about whether they would have the gene," she said.
Involving the Family
For families who carry the breast cancer gene mutations, cancer becomes a family affair as relatives go through diagnosis, treatment and sometimes death.
Skinner and Chavis recommend not hiding the situation from children; both have talked extensively with their children when they were old enough to understand. Any family member – including men – could be a carrier and pass it on to their children.
"My 10-year-old knows what's going on," says Skinner. "She knew Grandma was going to have surgery. I do think, especially if they are positive for the gene, it's a family discussion that should be had."
Chavis said the adults in her family did not wait to talk to their children about cancer and the genetic mutation they might carry.
"We were very open and honest with all of our kids," she says. "I think it's important to let them get involved with it because without information them about what the situation might be, it might cause them to be blindsided as they grow older.
"It prepares them for a situation they might have to endure themselves."
Chavis' son was 6 the first time she was diagnosed. Allowing children to be informed and involved as member of a family struggle with cancer helps them to strengthen and mature, says Chavis.
"It puts a fight in them because they want to see their parents healthy and whole," she says. "I think it was really good for my son. It's built a character in him, a perseverance."
She plans to suggest that her son get tested for the gene mutation after he turns 18.
Marty Minchin is freelance writer and mom of two who lives in Charlotte.