When Sherri Hollingsworth learned she had uterine cancer, it wasn’t a complete shock.
Many people in her family had been diagnosed with cancer, including her mother who had also been diagnosed with uterine cancer.
Because of her family’s strong predisposition to cancer and because gynecological cancers are often hereditary, Sherri’s doctor suggested she see one of the genetic counselors at the USC Norris Comprehensive Cancer Center.
Working with the doctors and counselors in the Cancer Genetics program at USC Norris , she pieced together a history of cancer in her family. A blood test confirmed what her doctor had suspected: She had Lynch syndrome, an inherited genetic condition that is associated with an elevated risk of several types of cancer.
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“I would say that figuring out I had a genetic mutation was a gift,” says Sherri. The information will help all of her family understand their risk and prepare for it.
“We know that in Lynch syndrome, screening leads to a 65% reduction in mortality,” says Stephen B. Gruber, MD, PhD, MPH, professor of medicine and preventative medicine at the Keck School of Medicine of USC, who has studied Lynch syndrome for 30 years. “Screening saves lives.”
Once a diagnosis is made, the team at USC Norris goes into high gear to develop a treatment strategy for the entire family. They will test other family members, work up their screening plans and intervene on their behalf with insurance companies. The team will seek low-cost options, when needed, and help their patients and their families stay on top of their screenings, including some they might not ordinarily get.
“Once someone comes to Genetics, we become super advocates for that patient and for their whole family,” explains Julie Culver, a genetics counselor at the USC Norris Cancer Hospital.
Kevin McDonnell, MD, PhD, assistant professor of clinical medicine at the Keck School, adds that the genetic information is also shared with patients’ medical teams, including oncologists, and may inform the type of treatment they receive. “With some genetic mutations, identification of the mutation may allow treatment with specific medications that improve their responses to cancer therapy.”
After Sherri tested positive for Lynch syndrome, her daughter Corey Kachigan also tested positive. Like her mother, Kachigan believes that knowing her genetic predisposition to cancer gives her an edge. At 25, she says she has time to work with the team at USC Norris to develop her screening plan. She also has many years to take charge of her overall health.
“The cancer genetics program team helped me understand that by no means is this a 100% guarantee that these things will happen,” Corey says. But to give herself the best shot at living a long life, Corey has come to terms with the fact that she will start screening younger than most people and will be tested for a wide variety of cancers.
In the meantime, she and her mother help each other through the journey by encouraging each other to eat healthfully and by regularly attending exercise classes together, including a barre class several mornings a week.
And should it come to it, the Cancer Center team is the most qualified to treat cancers that might arise. “We are the leading center in the nation for Lynch syndrome,” Gruber says. “We have all the expertise to manage patients with Lynch syndrome, from geneticists, surgeons, medical oncologists and clinical trials that help advance care for our patients.”
The bottom line for patients with Lynch syndrome
- Proactive, regular screening is essential to early detection and better outcomes.
- Patients with Lynch syndrome should begin screening for colon cancer earlier and more frequently than the general population.
- They should consider screening and preventative options for a broad variety of cancers.
Lynch syndrome: some facts
- In the genes: Lynch syndrome is an inherited genetic condition, also known as hereditary nonpolyposis colorectal cancer. Lynch syndrome carries a significantly higher risk for developing colon cancer, often at an earlier age than the general population.
- 70% by 70: Lynch syndrome patients have a 70% chance of developing colon cancer by age 70. It also increases the risk of several other cancers, including endometrial, ovarian, kidney, stomach, small bowel and hepatobiliary cancers.
- 30 years of research: Though a genetic link to colon cancer was suspected for about a century, the first gene associated with Lynch syndrome was identified about 30 years ago. Since then, research has pushed understanding of the disease and doctors have been able to adopt life-saving strategies that include screening, medication and, sometimes, risk-reducing surgery.
by Hope Hamashige