For patients, knowledge is power at Hereditary Cancer Clinic
Maria Ostling, 50, is a self-described “information junkie.” She’s online, ferreting out all she can and connecting with people who have the same hereditary condition that she and several family members have: Lynch syndrome. Maria refers to these online support networks as “Lynchville.”
Lynch syndrome is caused by inheritance of a genetic mutation that significantly increases the risks of several kinds of cancers, particularly colorectal cancer and, in women, uterine and ovarian cancers, says Dennis Ahnen, MD, a gastroenterologist at Denver VA Medical Center and consultant at the University of Colorado Cancer Center’s Hereditary Cancer Clinic.
Maria’s father developed cancer of the bladder at 26, colorectal cancer at 45 and died of cancer of the duodenum at 61. Maria’s sister Kitty, now 40, was diagnosed with colon cancer at 26. Their mother has lymphoma. An aunt died of breast cancer. But until fairly recently, none of the siblings’ health care providers connected the dots.
“For 12 years I’ve gone to doctors and written down my family history,” says Maria, who has two daughters and five grandchildren. “So have my brother and sister. And for 12 years, no one turned in his chair and looked at me and asked, ‘Has your family been studied?’ ”
It was the oncologist treating Maria’s mother who finally connected the dots, raising the possibility of Lynch syndrome. Early in 2012, Maria accompanied her sister to a meeting with Michelle Springer, one of three genetic counselors at the Hereditary Cancer Clinic.
Genetic counselors are the liaisons between the patient and physician, says Springer, who has been counseling patients for 14 years. Before she meets with patients, Springer collects information about the history of cancer in their family—as she did with Maria and her siblings—by way of a six-page questionnaire that asks about parents, siblings, grandparents, nieces and other family members. Using software, Springer creates a three generation family pedigree, which she then uses to create a risk calculation. Then she meets with the family—in this case, Kitty and Maria—for a thorough review of the findings.
“We’re trying to figure out the underlying cause of a cancer and whether there could be an inherited component to it,” Springer says. “While the vast majority (80-90 percent) of all cancers are sporadic, we know that about 10 percent of cases are hereditary, meaning that the person inherited an abnormal copy of a gene that puts them at higher risk.”
Lynch Syndrome accounts for about 3-5 percent of colon cancers. “Our clinic sees all types of patients with a personal and/or family history of cancer, including many families concerned about their risk of breast and colon cancer. One of the things we know about Lynch syndrome is that it’s highly under-diagnosed,” Springer says, “which is why many families go undetected.”
There is a huge push to increase education, awareness and testing for Lynch syndrome. The more the clinic can identify families at higher risk of developing cancer, the better the families will be at identifying their cancers earlier, if they do develop.
The Hereditary Cancer Clinic is unique in its design, Ahnen says. “Ours is different from most similar clinics in that everyone who comes for an appointment is seen by a clinician as well as a genetic counselor.” In addition to Ahnen, Catherine Klein, MD, oversees weekly clinics with the genetic counselors, including Springer, Lisen Axell and Lisa Ku. As thorough as genetic counselors like Michelle Springer are, it’s critical that a physician specializing in that patient’s cancer risk is present.
“Dr. Ahnen created a life plan—a roadmap for what we need to do,” Maria says. “They were very patient oriented. I’ve talked to a lot of people who have Lynch but don’t have that roadmap. It’s sad out there.”
Maria’s 27-year-old daughter tested positive for Lynch, as did Maria’s brother Curt, who says he was “shocked” because his health history and screenings have been clear. He admits to being less active than his sister in communicating about the syndrome, but he’s completely on board for his son to be tested (fortunately, so is his son).
The lifetime risk for colon cancer is about 50 percent in families with Lynch syndrome. “When we get family histories, we identify the cancer with molecular information from the tumor tissue; then we can suggest gene testing,” Ahnen says. “If the family agrees to the testing, we arrange genetic testing and if a disease causing mutation is found we help design a plan for cancer screening and prevention. For mutation carriers, we typically recommend a colonoscopy at 25 and every one to two years thereafter.”
For women with a higher risk of endometrial and uterine cancers, clinicians recommend endometrial aspirates and pelvic exams at 25 years of age. After children, Ahnen says, patients should consider a prophylactic hysterectomy and oophorectomy (removal of the ovaries) to prevent cancers of these organs. Maria and Kitty have both had the prophylactic surgery.
The biggest call to action for individuals: Know your family history. “Ask questions of your family members. Most people know what medical conditions their parents and siblings have had or how they died,” Ahnen says, “but many don’t have information beyond that. Talk to your provider about your history. Knowledge of your cancer family history doesn’t do as much good if your provider doesn’t know about it. Knowing this information is critical because it changes our medical management and screening recommendations.”
As one of Springer’s patients agrees, “Knowledge is power.”
“If your provider has any uncertainty, talk to a genetic counselor about whether you’d benefit from genetic testing,” Ahnen says. “Counselors here have done a great job of collaborating to make genetic testing available.”
Springer reassures patients that not everyone who has tested positive for Lynch will develop cancer. “I always tell patients that having Lynch syndrome is not a death sentence, as many of the cancers associated with Lynch syndrome can be prevented.”
Still, screening—even when it’s limited for some kinds of cancer—is crucial for everyone. Maria Ostling had a colonoscopy in 2012, and they removed a pre-cancerous polyp. The previous diagnosis of Lynch syndrome prompted her to have another colonoscopy just one year later (it was clear).
“Had I waited, I would have had full-blown colon cancer by now because polyps can progress so much more rapidly in families with Lynch,” Maria says. “And had my sister not gone through what she had, and been tested, I wouldn’t have known about this.
“Someone’s watching over us. My family may have Lynch, but Lynch won’t have my family.”