Family’s Cancer Genetic Testing Offers Explanation and Risk Reduction Strategies
Testing led to diagnosis of Lynch syndrome
When Kathleen Luft had colon cancer at age 45, her doctor recommended she be tested to see if the diagnosis at such a young age could be traced to something in her genetic makeup. But when her insurance wouldn’t cover the cost, and Kathleen couldn’t afford to pay, their “Plan B” was for her to have a colonoscopy every two years.
Kathleen Luft, 59, of Novi has a genetic flaw that
When colon cancer struck again in 2011, Kathleen, 59, of Novi had already buried a brother and sister, and a nephew. Her brother had kidney cancer, and died at 46. Her sister had survived colon cancer at 32, but also died at 46 after a diagnosis of ovarian cancer. Her nephew had colon cancer, too, and died at 39.
Kathleen knew about genetics and their role in hereditary diseases, and still wanted to know if her family carried a flawed gene. Thanks to a change in her coverage, Kathleen’s insurance now pays for the diagnostic test. Her results from Beaumont’s Cancer Genetics Program confirmed Kathleen’s fear of a flawed gene and led to a diagnosis of Lynch syndrome. Kathleen Lynch Luft can’t help but note the irony in the match between the syndrome and her maiden name.
Lynch syndrome is a rare condition characterized by damage in one of a handful of genes. Those who have it are at increased risk of colon and other cancers, and of having cancer at an early age. The other cancers can appear in the ovaries, kidneys, stomach, pancreas, prostate and brain. When a parent has Lynch syndrome, his children have a 50-50 chance of having it too.
Of the 160,000 new colon cancers diagnosed each year in the United States, 2-7 percent is due to Lynch syndrome.
“Although it’s always a personal choice, I think genetic testing is the best option for high-risk individuals,” says Dana Zakalik, M.D., director of the Cancer Genetics Program. “It may be difficult to learn of a damaged gene, but armed with this information, we can devise strategies for cancer prevention, heightened surveillance and early intervention if disease develops.”
Patients like Kathleen in Beaumont’s program not only have their blood tested for faulty genes, they also get a comprehensive family history evaluation, counseling, risk assessment, and information about reducing that risk as well as heightened surveillance.
Once she knew the truth about her genetics, Kathleen had heart-to-heart talks with her five living siblings. As a result, two of her sisters were tested for the Lynch defect – only one is positive. Two of her brothers are waiting for their results, and one more brother has not been tested. Kathleen urged all of them to get tested, if not for their own sake, then for the next generation. All of them have children.
In addition to the nephew who died in his 30s, one of Kathleen’s nieces had colon cancer at age 32, but survived. Three nieces have been tested but don’t know their results yet. Kathleen’s two sons were also tested and, again, only one is positive. His doctor advised surgery after a recent colonoscopy revealed a pre-cancerous spot, and the son, 35, is getting a second opinion. “I feel bad,” she says of passing along the defective gene. “I thought it would stop with me.
“To get it and know you have it is kind of rough,” she says of the testing and the genetic flaw. “But by the same token, I’m very optimistic.”
Beaumont’s Cancer Genetics team includes a board-certified oncologist and three cancer genetic counselors, and access to supportive care nurses and a psychologist. Services are offered at the Royal Oak and Troy hospitals, with plans to expand to Beaumont Hospital, Grosse Pointe this year. Visit cancer.beaumont.edu/genetics or call 248-551-3388 for more information.
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