Is the risk of breast cancer sometimes genetic?
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A new partnership between Hilton Head Regional Medical Center and the Hollings Cancer Center of the Medical University of South Carolinaallows more genetic counseling and testing options for patients of the island hospital. Interested patients should talk to their doctors.
Kim Wooden was adopted, so, for a long time, shedidn't know her biological mother had breast cancer at 28 -- only a year before Kim was born.
Kim requested health information from the adoption agency when she was in her 20s. That information revealed her grandmother had breast cancer and died at 55. Her father's medical history was limited.
Once she learned her background, Kim got mammograms every three years, the schedule recommended for young women at risk of developing breast cancer.
But the technology did not detect it.
"I found the right lump first," she said. "I thought, 'Oh my gosh.' It was like a little over 2 centimeters, so I could feel that one. Another week went by ... I found another one."
At 36, doctors diagnosed her with bilateral breast cancer, meaning there was cancer in both breasts. She learned her diagnosis four days after starting a new job with the Beaufort County School District. Her illness forced her to quit.
Survival meant radical surgery -- a double mastectomy and hysterectomy-- followed by chemotherapy and radiation. She had the hysterectomy because women with breast cancer also are at risk for developing ovarian cancer.
"My doctors kept saying, 'We are eradicating this cancer because we don't want you to go through this again,'<2009>" said the married mother of three children, ages 18, 13, and 4. "I have to be around. I don't want any chance of cancer coming back."
Given her background and age, doctors urged genetic counseling and testing to determine if she had a hereditary disease.
"I did it more or less for my children, because there's a 50-percent chance that they carry the gene mutation also," Kim sAID.
CANCER-CAUSING GENES
Most women diagnosed with breast cancer have no family history ofthe disease, but about 5 percent of that number have a gene mutation that causes the illness, said Dr. Virginia Heranncq of the Breast Health Center at Hilton Head Regional Medical Center.
Some ethnic backgr also carry a higher risk for breast cancer, such as those of Ashkenazi Jewish descent. Island resident Anita Loeser is one of them, is now undergoing chemotherapy to treat her cancer. She had the genetic test, and results came back negative. But as research on genetic mutations continues, future tests may be able to determine if she carries the disease in her DNA.
The most common mutations -- which were discovered in 1990 -- that cause an increased risk of breast cancer occur in two genes: BRCA1 and BRCA2.
Everyone has those genes, but those with mutations in either of those genes have an 80 to 90 percent chance of developing breast cancer in their lifetime, as well as an increased risk for other cancers.
"The gene mutation can exist in either parent," Herrmann said. "It's not something that is just passed from mother to daughter. ... That's why paternal history is so important."
Once hereditary disease is identified in a patient, doctors offer the patient and family members more frequent surveillance through routine mammography, MRI scanning and screening for other cancers. Some women also choose to get a mastectomy or hysterectomy before the cancer develops.
GETTING TESTED
"There's a lot of mystique about genetic testing," Herrmann said. "But it's not the first step. Genetic counseling is the first step."
Thanks to a new partnership between the island hospital and the Hollings Cancer Center at the Medical University of South Carolina, a genetic counselor comes to Beaufort every other month to meet with Herrmann's patients.
Genetic counselor Lyn Hammond takes a detailed family history, which can indicate the patient's likelihood of having either mutation.
Hammond said two types of patients usually are referred for counseling: those who never had cancer but are at high risk, or those who have cancer and want to know if they carry the mutation.
"We try to test a family member who already has cancer," Hammond said. "That's the ideal way to properly interpret the test result."
The test consists of simple bloodwork. The sample is sent to a lab in Utah called Myriad, which holds the patent for genetic testing.
If insurance does not cover the test's $3,120 cost, the patient can opt out, Hammond said.
For those who complete the test, other family members can get the test for less than $400. MUSC also has funding to help defray costs for under-insured patients.
"The counseling gives you so much information," Herrmann said. "Sometimes you know there is a genetic mutation even if they didn't get tested. It's obvious when there is a pattern of cancer."
FINDING CANCER EARLY
The family history charted through counseling revealed Kim had a 99.4 percent chance of carrying the mutation before testing.
She has the BRCA1 mutation. She finished radiation last April, is now free of the disease and working at M.C. Riley Elementary School as a media assistant.
Her 18-year-old daughter, Nicole, knows her mom has the mutation, and that she is eligible for the genetic test at 20. Kim said she will encourage all her children to be tested in an effort to catch -- and treat -- the disease early. That's an approach her doctor agrees with.
"Some people think the best gift we have is not knowing the future," Herrmann said. "But if you can really have a window into that future and recognize what diseases you are at risk for, and take measures to avoid that, then that's a blessing."
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