When Kathy Reichwald was diagnosed with colon cancer in 2015, all signs pointed to Lynch syndrome, an inherited condition that increases a person’s risk for gastrointestinal, gynecologic and other cancers.
A routine colonoscopy found a tumor with that had the typical characteristics of a Lynch-related colorectal cancer. Even her pathology indicated that the tumor was likely the result of Lynch syndrome, which is associated with about 3 to 5 percent of new colorectal cancers.
After her surgery, when the results of her genetic test came back, she learned that all of the genes known to be associated with this hereditary cancer syndrome were normal.
“Everything pointed to Lynch, but it was not Lynch,” Reichwald says.
Instead of being relieved, Reichwald, 69, of Greece, became anxious. Her test results left open the possibility that she has Lynch syndrome but that the science hasn’t yet identified all of the gene changes associated with it. She was afraid that she wouldn’t be able to get the screenings she needed, and she didn’t know what to tell her children or her siblings.
Her medical oncologist, Marcus Noel, M.D., referred her to Wilmot’s Hereditary Cancer Screening and Risk Reduction Clinic for support.
The clinic is designed to guide and support individuals and families who have inherited cancer syndromes or a strong family history of cancer. Run by medical oncologist Michelle Shayne, M.D., and senior nurse practitioner Carol Lustig, RN MSN ANP-BC, the clinic helps patients navigate a new schedule of cancer screenings and offers guidance on how to talk to their family members about their risk. The clinic, which debuted late last year, picks up where genetic testing leaves off, offering individuals and families regular, long-term follow-up.
“I was thrilled,” says Reichwald. “I didn’t want to fall through the cracks.”
Hereditary cancer syndromes are caused by mutations in genes that are passed from parents to children. These gene changes put families at higher risk for certain cancers, and they play a major role in about 5 to 10 percent of all cancers. Scientists have associated mutations in specific genes with more than 50 hereditary cancer syndromes. Among the most well-known examples are the BRCA1 and BRCA2 genes, which are associated with hereditary breast and ovarian cancer syndrome. Other examples include Li-Fraumeni syndrome, which increases the risk for bone and soft tissue cancers, breast cancer, brain tumors, and cancer of the adrenal gland; and Cowden syndrome, which increases the risk of breast, thyroid, endometrial, and other types of cancer.
Having an inherited mutation isn’t a guarantee that a person will develop cancer, but physicians recommend that they begin screening at younger ages and do it more frequently than the rest of the population.
“With this program, we have the opportunity to detect cancer early and to prevent cancers,” says Lustig, who specializes in gastrointestinal cancers and has a special interest in hereditary cancer syndromes.
Patients are referred to the clinic by geneticists, primary care providers who know their patients have hereditary cancer syndromes, medical oncologists and others who suspect the patient’s cancer may be linked to inherited gene changes.
Lustig and Shayne tailor surveillance recommendations to each patient based on their type of gene mutation, degree of risk, family history and personal preferences. In addition to suggestions for physical activity and nutrition, they may also offer information about surgical approaches and medications that can reduce cancer risk. The clinic is also available to local family members who have the same gene mutation.
“Patients who come to this clinic report a great sense of relief at not having to manage the complexities of surveillance on their own,” says Shayne, who specializes in breast cancers. “We’re helping patients weigh their options and decide what makes sense for them.”
For Sue Robinson, 68, of Honeoye Falls, taking a more natural approach has helped. Diagnosed with colon cancer at age 37, she didn’t learn that she had Lynch syndrome until about 15 years ago when she participated in a study that tested for gene changes. She could have opted to have a hysterectomy or to have her colon removed to reduce her risk for developing another cancer.
“With Lynch syndrome, I could take every part of my body and have nothing left,” says Robinson, who visited Wilmot’s hereditary cancers clinic on the recommendation of her gastroenterologist, Danielle Marino, M.D.
Instead, she follows the recommendations for screening and focuses on eating whole foods and a plant-based diet. Over the years, she has made sure that her son and daughter, now grown, understand their risk and their options. She keeps herself and her family educated, and she encourages others not to fear information.
“I keep telling everybody that knowledge is power,” says Robinson, who lost her brother to a Lynch-related brain cancer and has a sister without Lynch syndrome.
With rapid advances in the understanding of genetics and cancer, that knowledge will be powerful for patients and oncologists. New information can provide clues as to next steps — and some peace of mind — for patients like Reichwald.
“I feel safer because if they find a gene for me, they’ll notify me,” Reichwald says. In the meantime, she knows when to get screened and for what, and she has a plan for diet and exercise.
“I have a team behind me.”