Surgeon searches for cancer answer
Family’s genetic mystery guided treatment options
When women in Marla Dudak’s family started getting breast cancer, the Boca Raton breast surgeon decided to do genetic testing. The results left in her a quandary.
Not long ago, Oscar-winning actress Angelina Jolie made headlines when genetic testing revealed a high risk for breast cancer and she opted to preventatively have her breasts removed. Jolie has a BRCA1 gene mutation which carries an 85 percent lifetime risk for breast cancer. Her mother, grandmother and aunt died of cancer.
Instead of BRCA, Dudak and her family members tested positive for a different gene mutation. The
CHEK2 mutation carries a lower risk than BRCA, but
still can nearly double breast and colon cancer risk and increase prostate cancer risk. Knowing she had the mutation, Dudak faced a difficult decision: whether to take a surgical approach to prevention, like Jolie, or a less aggressive path.
“These genetic tests are not something to enter into lightly,” she said.
Although the breast surgeon specializes in mastectomies, she is taking a different course of action. Dudak said she felt the 48 percent lifetime risk associated with the CHEK2 remains below the threshold that calls for surgery. She opted instead for increased screenings starting at a younger age than recommended guidelines — getting mammograms and MRIs with contrast yearly, and a colonoscopy every five years. She also manages her lifestyle: exercising regularly, refraining from alcohol and animal fat, and eating lots of fruits and vegetables.
Within her own surgical practice, Dudak uses genetic testing to guide her patients on the best options for their care. In Boca Raton, many of her patient’s Jewish heritage and family history put them at risk for breast cancer. This type of screening, she says, can help patients make an informed decision about prevention or treatment based on their personal level of risk.
Genetic tests used to be expensive and require an insurer’s approval. But a lot has changed in the last five years. A Supreme Court ruling led to more companies jumping in and testing becoming more affordable, more accessible and more comprehensive. Dudak notes: “The world of genetics is open now.”
Instead of testing just for BRCA 1 or 2, newer panel genetic tests now look at a dozen or more genes, including seven mutations with risk factors for breast cancer. One of the gene mutations, CDH1, carries not only high risk for breast cancer but also for gastric cancer, and people who have it often opt to have their stomachs removed.
For testing, Dudak sways her patients away from ancestry DNA testing and instead recommends they use a medical lab, such as Colors Genomics in California, which charges a flat fee of $258 for personal screening, using either saliva or blood.
If a cancer risk is identified, treatment options can range from lifestyle changes and enhanced screening to surgery and endocrine therapy.
“A lot of these genetic mutations are brand new, and we don’t know enough about them. So it’s about keeping my patients updated and letting them know that just because you have a mutation doesn’t mean you’re going to get cancer,” Dudak said.
When women do get breast cancer, they can opt for another form of genetic testing called tumor sequencing, to identify unique DNA changes and in some cases, help determine a treatment plan. As Dudak explains, not every known gene mutation has a corresponding medicine to treat it, but some do.
As a surgeon, Dudak used to be a proponent of a double mastectomy when cancer was present, followed by breast reconstruction. But the latest studies show that such invasive treatment is unnecessary — sometimes a lumpectomy combined with chemotherapy, immunotherapy or medication is sufficient.
“Women have the idea that taking off their breasts saves lives, but what saves lives is the right medicine,” Dudak said. “What the research community is doing is trying to find better and better medicine, and they are really succeeding.”
Dr. Mohammad Jahanzeb, a Boca Raton oncologist and founder of Florida Precision Oncology, said he, too, has been fielding questions about genetic testing and breast cancer prevention. He recommends testing mostly for those like Dudak with a family history of cancer.
“A vast majority of women with breast cancer have no family history,” he said. For those that do have a family history and test positive for a gene mutation, Jahanzeb might recommend preventive surgery, or steer the patient toward a prevention drug trial. Unfortunately, some genetic tests show newly discovered abnormalities for which doctors still lack information.
Jahanzeb said most women who do develop breast cancer have a cure rate of 90 percent.
“Between the genetic testing and the improvements in screening and the improvements in treatments, we are able to cure more women with breast cancer than ever before,” he said.