Angelina Jolie, local doctors endorse genetic test plus counseling to weigh cancer risk
Summerville resident Dawn Berger made the painful choice this past February to remove both her breasts to avoid developing the same cancer that killed her aunt just months before.
By the numbers
40,775The number of new cases of breast cancer reported in S.C. between 1996 and 2009.68.1The average number of women out of 100,000 who are diagnosed with breast cancer in S.C. each year.40,000The average number of women who die from breast cancer every year in the U.S.2005The year the S.C. Department of Health and Human Services started offering Medicaid coverage to qualifying women diagnosed with breast cancer.11 & 39Black women in S.C. are 11 percent less likely to be diagnosed with breast cancer, but 39 percent more likely to die from the disease than white women.Sources: State agencies
“That’s when I decided I’m going to do it,” said Berger, 41. “I was tossing the idea around, and when that happened, I was like, OK.”
Two drawbacks of the BRCA1 and BRCA2 genetic test are that it’s expensive — $3,700 locally — and these mutated genes account for only a relatively small percentage of breast cancer cases. Also, the absence of these genes doesn’t necessarily mean you won’t eventually develop breast or ovarian cancer.That’s why Iverson Genetics, with labs in Bothell, Wash., and Charleston, is rolling out a $250 genetic test on June 1 that will screen a woman’s risk for breast cancer.It will not check for faulty BRCA genes, but rather three genes linked to estrogen metabolism.“It’s long been known that estrogen metabolites are recognized as a primary risk factor of the development of breast cancer,” said Iverson Genetics scientist Christina Mailloux.The test, available through a physician’s office, also will weigh other risk factors, including a family history of cancer, the level of hormones a woman has taken over her lifetime and the number of children she has.
Aside from the small fact that she’s not world famous — she works the night shift as a lab assistant at Summerville Medical Center and freelances for The Post and Courier’s Charleston Savvy Shopper blog — Berger’s story closely resembles one that Angelina Jolie told in a New York Times op-ed last week.
Genetic testing determined Jolie carried a mutated gene that predisposed her to develop breast and ovarian cancer and elected to undergo a preventive double mastectomy.
“My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is different in the case of each woman,” Jolie wrote.
When Berger explained her surgery to co-workers — same mutated gene, same family history, same difficult choice — she said she was met with some confusion.
The difference is when Jolie talks about cancer (or picks her kids up from school, cuts her hair or undertakes any number of mundane tasks), people pay attention.
“Her livelihood depends on her being this perfect female,” Lucy Spears, mission programs manager at Susan G. Komen Lowcountry, said of Jolie. “I think it can have a very positive effect. We tend to put celebrities on pedestals and forget that they are just as human as we are.”
After her double mastectomy, Jolie’s cancer risk dropped to 5 percent.
“Our hope is that she has empowered other women to discuss their risk for breast cancer with their doctors — not to scare them, but to encourage them to know their bodies and be their own advocates,” said Spears, a breast cancer survivor.
At the Medical University of South Carolina, the genetic test for a mutated BRCA1 (breast cancer 1) or BRCA2 gene, both associated with increased risk of breast and ovarian cancer, costs an average $3,700 and is covered by only some health insurance policies. Also, a mutation of one of those genes is relatively rare. They account for 5 to 10 percent of all breast cancer cases.
Dr. Paul Baron, a breast surgeon at Cancer Specialists of Charleston, added that a patient still can develop breast or ovarian cancer, even if a genetic test shows no sign of a mutated gene.
“That’s the most common misconception I hear,” Baron said.
MUSC breast surgeon Dr. Megan Baker Ruppel said the genetic test is a powerful tool, but must be accompanied by counseling, which helps interpret the significance of the test results and weigh other risk factors.
“The genetic counseling is the most important part,” Baker Ruppel said. “You need to know how to interpret a positive test, but also a negative test.”
For example, mutated BRCA1 and BRCA2 genes are linked to breast and ovarian cancer but can indicate elevated risk for other diseases, too, in both men and women, including prostate, colon and skin cancers.
A doctor is trained to help the patient consider these risks and interpret the test results through genetic counseling, Baker Ruppel said.
“There have been a lot of people who have been tested without counseling,” she said. “It’s being done really inappropriately.”
Reach Lauren Sausser at 937-5598 or lsausser@post andcourier.com.