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Knowledge Is Power!

Celebration Health Launches Women’s Hereditary Cancer Program

Women with a strong family history of breast, ovarian or other cancers can learn if they carry a genetic mutation that places them at an increased risk for a malignancy and discuss their options for reducing their chances of developing cancer at Florida Hospital Celebration Health’s Center for Hereditary and Genetic Syndromes.

“Without a program like this and community outreach, most people don’t know, and that is scary,” said Dr. Aileen Caceres, MPH, FACOG, a fellowship-trained gynecologist and medical director of the Center for Hereditary and Genetic Syndromes.

People with a strong family history of breast, ovarian, uterine or colon cancer may carry hereditary BRCA1 and BRCA2 gene mutations. About 5 to 10 percent of the general population carries the mutation, which is passed from one generation to the next.

“When we know about these mutations then we can help prevent a cancer from developing,” Dr. Caceres said.

Getting Tested

Concerned women can meet with a Celebration Health physician to discuss their risk. The clinician will ask about the patient’s family history of cancer and plug the information into a computerized risk model. People deemed to have a 20 percent or greater risk are then offered genetic testing.

“A genetic counselor will go into greater detail of the family history and pedigree,” said Dr. Olga Ivanov, a fellowship-trained breast surgeon.

Many patients fear knowing the results and the reality of their increased risk, and in many cultures, people do not talk about having cancer or are embarrassed about it. Yet talk they must.

“Knowledge is power,” Dr. Caceres said. “There’s nothing to be ashamed of.”

Physicians can refer patients to the center for testing and consultation. The Celebration Health team can then co-manage the patient with her primary physician or gynecologist. At Celebration Health, individuals age 21 and older are eligible to have genetic testing.

If the patient’s genetic testing does not show a mutation, she still may be at an increased risk for a hereditary cancer. The clinician will refer that person to the genetic counselor to delve deeper into the family history. The case then goes before the hospital’s genetic tumor board, a multidisciplinary team that will discuss the patient’s risk and recommend the next steps for screening and treatment.

“Most tests come back negative, but that doesn’t take away the family history,” Dr. Ivanov said. “We don’t say, ‘Go, you are fine,’ because there is probably something unidentified that we don’t know about. We would screen more often and rigorously.”

With these additional screenings, a developing breast cancer would be detected earlier than with a traditional annual screening.

Treatment

Patients with the BRCA mutation have up to a 40 percent greater risk of developing ovarian cancer and an 87 percent greater risk of developing breast cancer than the general public. Women testing positive should share that information with their female family members so those women also can reduce their risk.

“By knowing, a woman can prevent breast cancer and prevent death, not only in herself but in her family,” Dr. Ivanov said.

If a woman comes in with breast cancer and tests positive for BRCA1 or BRCA2, the team will recommend removing the healthy breast to reduce the 40 percent risk that cancer will develop in the second breast. Additionally, they will meet with Dr. Caceres and Dr. Ricardo Crisostomo, a medical oncologist, to discuss ovarian cancer.

Patients found to be at an increased risk enter a “circle of care” and consult with Dr. Caceres, Dr. Ivanov and Dr. Crisostomo about their options. That might entail more frequent and sophisticated screenings for breast cancer, such as with magnetic resonance imaging (MRI); chemoprevention, with a daily medication to reduce risk; or prophylactic surgery, removing the breast tissue and ovaries.

“Going ahead with the prophylactic [breast] surgery reduces the risk from 87 percent to 5 percent,” Dr. Ivanov said. “The risk is never down to zero because we do not remove every single breast cell from the skin flaps.”

Having the surgery is an extremely personal decision for the woman.

Currently, additional screening for ovarian cancer is not recommended, although research continues. The two current tests, the CA-125 blood test and transvaginal ultrasound, are not nonspecific and nonsensitive when microscopic disease exists, so they often give false positive results.

“Ovarian cancer is a master in disguise,” said Dr. Caceres, who emphasizes the importance of prophylactic surgery. “If you are done with childbearing, you can proceed with a mastectomy and removal of the ovaries.”

At Celebration Health, the breast and ovarian surgeries, as well as breast reconstruction, can take place during the same operative procedure.

“We have coordinated our efforts,” Dr. Caceres said. “It’s amazing to see this in the operating room.”

Typically, the gynecologist operates first, laparoscopically or robotically removing the ovaries; followed by Dr. Ivanov, the breast surgeon; and then Dr. Helen Kraus, a plastic surgeon, begins breast-reconstructive surgery.

“It’s a great convenience for the patient, because they are done [at] one [time],” Dr. Ivanov said. “It saves the woman [from] going under anesthesia multiple times.”

Patients generally spend one night in the hospital and go home the next day. The multiple procedures do not increase recovery time.

“Breast-reconstruction patients may need a second surgery if an expander was inserted rather than an implant during the initial surgery. It helps the patient get back into a positive situation,” Dr. Kraus said. “It’s all about the woman taking care of things in an efficient and safe fashion.”

About eight patients have received the tri-modality surgery, and the clinicians at Celebration Health are conducting a study to evaluate their quality of life and outcomes.

“We’re one of the few places in the nation doing this combined approach,” Dr. Caceres said.

Celebration Health clinicians provide thorough follow-up for the patients with a mutation. For instance, they discuss patients’ eye health and refer them to an eye specialist because of an increased risk of retinal melanoma; schedule annual colonoscopies; and perform other tests as needed. Women undergoing the prophylactic breast surgery no longer require annual mammograms.

Women with the BRCA1 and BRCA2 genes often experience relationship difficulties and can benefit from support groups and talking with women in similar positions.

“This is comprehensive, multidisciplinary care, and you have support at a higher level here,” Dr. Caceres said.


For more information about Florida Hospital Celebration Health’s Center for Hereditary and Genetic Syndromes, call 407-303-4424 or visit http://www.celebrationgenetics.com on the Web.