Fred Schmitz's breast cancer diagnosis in 2006 had a domino effect on almost everyone in his family.
Because of his family history of cancer, including a sister who had ovarian cancer, doctors strongly recommended the family undergo genetic testing.
"We prefer to start the genetic testing with a person in the family who has been diagnosed with cancer," says Leigha Senter, a certified genetic counselor at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. "For someone in a family with a history of breast and ovarian cancers, we test for mutations in the BRCA1 and BRCA2 genes, the two genes most frequently associated with breast and ovarian cancers. Testing the first person in the family is like going through an encyclopedia looking for a typo. Once we've found where the mutation is, we can go to that exact spot on the gene of family members to see if they also have the mutation."
When Schmitz's test showed he had the BRCA2 mutation, his children and extended family all started to consider their options. Three of his five children decided to be tested and all three tested positive for the same mutation.
His daughter, Diane Balster, 43, was one of those three. Balster had accompanied her father to almost all of his appointments with his surgical oncologist, Stephen Povoski, MD, and once she discovered she shared her father's gene mutation, she consulted with Dr. Povoski about what she should do next.
"With any patient with the BRCA1 or BRCA2 gene mutation, we focus on intensified monitoring to find breast cancer early," says Dr. Povoski. "I see these patients every six months. Before each of those appointments, they have either a mammogram or a breast MRI."
Dr. Povoski also refers these patients to Michael Blumenfeld, MD, a gynecologist who has expertise in the gynecologic evaluation and management of women with BRCA mutations. Because ovarian cancer is much more difficult to detect, patients often opt to have their ovaries and fallopian tubes removed in order to significantly reduce the risk of cancer.
"Removal of the ovaries has an added benefit in those women under the age of 40. For them, we decrease their risk of developing breast cancer by more than 50 percent," says Dr. Blumenfeld.
Balster decided to have her ovaries removed by Dr. Blumenfeld. She began seeing Dr. Povoski every six months. After two years, she also decided to have her breasts removed.
"It wasn't an easy decision," says Balster. "I discussed it thoroughly with Dr. Povoski, my family and our priest. I ultimately came to the decision that I didn't want to live with the fear of finding something at one of those six-month visits."
Dr. Povoski referred Balster to plastic surgeon Pankaj Tiwari, MD, who specializes in breast reconstruction. Dr. Tiwari explained all the different options.
"Diane did not want implants; she wanted her reconstruction to be as natural as possible," says Dr. Tiwari. "We opted to reconstruct her breasts using a procedure called DIEP flap, which uses skin and fat from the patient's own abdomen."
In December 2008, Balster had surgery to remove her breasts and reconstruct them at the same time. First Dr. Povoski removed her breasts, and then Dr. Tiwari stepped in immediately following for the reconstruction. Happy with her decision and the results of the surgery, Balster is now looking at her family's next generation. With three teenage daughters, she knows she'll be able to share her experiences with them when and if they choose to have genetic testing. And, if they test positive, she'll be able to guide them through the maze of decisions that follow.
To talk with a genetic counselor, contact OSU Clinical Cancer Genetics at 1-800-293-5123.
Ask Your Advocate
Q. What does genetic testing involve?
A. Testing usually involves meeting with a genetic counselor and a doctor who specializes in genetics. A thorough family history is completed and, when appropriate, blood work is done. Breast and ovarian cancer syndrome is a hereditary condition responsible for 5 to 10 percent of all breast and ovarian cancers.
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