In the Genes: Determining One Family’s Cancer Risk and Delivering Lifesaving Care
Genetic testing uncovered one family’s risk for breast and gastric cancers. TriHealth’s Hereditary Cancer Multidisciplinary Clinic provided lifesaving surgical strategies.
Though cancer is a deeply personal experience, for people with inherited cancers, it’s also a family affair. This was the case for Linda Wehby, 51, of Mason, Ohio, whose world turned upside down following a routine mammogram last summer. The results showed a small abnormality and a subsequent biopsy tested positive for stage one breast cancer. Though daunting, this initial diagnosis triggered a chain of events that saved Linda’s life—and changed the future for her family.
Linda met with Barbara Wexelman, MD, a breast surgeon with TriHealth Cancer Institute. “I reassured Linda that her cancer was caught early—but her paternal medical history gave me pause,” she says. Breast cancer had impacted a large number of Linda’s relatives, including her grandmother, aunt and several great aunts. One cousin died of gastric cancer at age 40.
Remarkably, Linda’s father had undergone previous testing for the two breast cancer genes known to cause increased risk of breast and ovarian cancer at that time, BRCA1 and BRCA2. “It’s rare for an older man to get tested without a cancer diagnosis,” says
Dr. Wexelman, who explained that though Linda’s father’s BRCA1/2 result was negative, she still felt Linda needed additional genetic testing before surgery. “Linda’s early stage breast cancer coupled with her dad’s negative BRCA testing meant a lumpectomy would be recommended for Linda. If testing brought up another gene abnormality, my surgical approach would change.”
Discovering the CDH1 Gene
Linda was referred to Courtney Rice, MS, one of four licensed genetic counselors at TriHealth Cancer Institute specializing in cancer genetics. “In the 1990s, BRCA1 and BRCA2 were the only genetic tests done for breast cancer,” she explains. “Technology and knowledge have advanced so much that we now offer multi-gene panel testing that analyzes 10 or more breast cancer genes with a single test. We learn more about breast cancer risk, as well as many other cancer risks.”
At Linda’s genetic counseling appointment, she and Rice completed a detailed family tree. Rice educated Linda about potential cancer risks and explained the benefits and limits of gene testing. “Deciding whether or not to have genetic testing is ultimately a personal choice,” says Rice. Linda felt strongly that she wanted to know: “Knowledge is power,” she affirms.
Linda submitted a blood sample as part of a gene panel test for 42 genes. Test results revealed a CDH1 gene mutation. “Courtney was brutally honest and told me I had an increased lifetime risk of developing lobular breast cancer and hereditary diffuse gastric cancer (HDGC),” says Linda. Diffuse gastric cancer is a particularly aggressive and rare form of stomach cancer. Patients who inherit the genetic mutation for HDGC are at high risk for developing gastric cancer at a young age. Cancer cells spread in the lining of the stomach, making it hard to detect them by upper endoscopy. Lifetime risk of developing gastric cancer can be as high as 80 percent for CDH1 carriers.
For Dr. Wexelman, Linda’s status as a CDH1 carrier was a surgical game changer. Female carriers have an estimated 60 percent lifetime chance of developing lobular breast cancer.
“Because of Linda’s predisposition, she was at increased risk for developing cancer again,” says Dr. Wexelman. She altered her original surgical plan and scheduled Linda for a bilateral (double) mastectomy and reconstructive surgery.
Prior to breast surgery, Linda met with David Lee, MD, a surgical oncologist and specialist in gastric cancer with the TriHealth Cancer Institute. Dr. Lee suggested a drastic and life-altering surgical procedure. “National Comprehensive Cancer Network guidelines recommend a prophylactic gastrectomy (removal of the entire stomach) for people with CDH1 mutations,” he says of the only proven way to prevent and cure gastric cancer. Dr. Lee also recommended that Linda’s children— ages 23, 26 and 29—have the procedure before the age of 30 if they tested positive for CDH1.
According to Rice, the inheritance of the CDH1 mutation is autosomal dominant, meaning it affects both men and women. There was a 50/50 chance Linda’s two sons and daughter might inherit the gene. “Five years ago, this mutation would not have been identified,” she says.
Telling the Family
Linda’s role switched from patient to educator as she gathered her family together to discuss CDH1 and genetic counseling. A smaller group then met with Rice for detailed information. Some of Linda’s extended family and all of her immediate family decided to pursue genetic testing. “My father, my brother, Kevin, and my three children tested positive for CDH1,” reveals Linda. One of her brothers received a negative result.
“It’s not always possible to predict what emotions will arise after a positive test result,” says Rice. Genetic counselors are specially trained to help patients anticipate emotions before testing and then navigate different emotions afterward. “Sometimes there’s guilt or shame when a parent or grandparent discovers that a gene they passed down may cause a cancer risk to their children or grandchildren. As genetic counselors, we are sensitive to emotions. We can connect families to support groups for hereditary cancer families or with behavioral counseling specialists on our team.”
What Linda’s family experienced is not rare. “Last year, the TriHealth Cancer Institute found 186 individuals with a genetic predisposition to certain cancers. When there is a strong family history of cancer, or a positive genetic test result, we encourage families to share the information with each other and with their health-care providers. Communication and accurate information is the most important step in helping families get appropriate screening and ideally prevent cancer or catch it early,” says Rice. She points out that popular web-based direct-to-consumer DNA sites do not accurately predict cancer risk. “They are not comprehensive enough.”
Linda’s family members who received positive CDH1 test results were offered appointments at TriHealth Cancer Institute’s Hereditary Cancer Multidisciplinary Clinic. The only clinic providing this type of care in the greater Cincinnati area, the clinic provides a structured follow-up process, including regular testing and physician visits for patients at high risk for cancer. The Clinic’s multidisciplinary team includes genetic counselors, Dr. Wexelman and Dr. Lee, along with specialists from medical oncology, gynecologic oncology, gastroenterology, research, nutrition and behavioral health.
Hereditary Cancer Multidisciplinary Clinic
Dr. Wexelman describes the Clinic as a “one-stop destination” for people predisposed to cancer. Specialists convene to discuss a case together and then meet individually with each patient. “From the moment my family learned about our CDH1 risks, the Clinic has taken care of every detail,” says Linda, who attended with her daughter. “They scheduled all of our appointments. We showed up and specialists came to us, one at a time. It was convenient and so informative.”
Linda chose to follow her team’s advice and have surgery to reduce cancer risk. Despite a positive CDH1 result, her father opted not to undergo stomach surgery.
In September 2017, at TriHealth’s Good Samaritan Hospital, Dr. Wexelman performed a bilateral mastectomy on Linda, removing both breasts. She had immediate breast reconstruction with DIEP flaps by plastic and reconstructive microsurgeon Bianca Chin, MD. This procedure reconstructs the breasts using the skin and fat from the abdomen and preserves the abdominal musculature. Linda did not require chemotherapy or radiation and won’t need regular mammograms. “We anticipate the treatment was curative,” says Dr. Wexelman.
Linda’s brother, Kevin, had a total gastrectomy at Bethesda North Hospital in February 2018, and Linda had the procedure one month later. Dr. Lee and his surgical partner, Erik Dunki-Jacobs, MD, removed the siblings’ stomachs in a minimally invasive fashion through the use of robotic-assisted surgical technology. “We removed the entire stomach through a small incision. We brought up a piece of the small intestine and created a new connection to the esophagus,” explains Dr. Lee.
Linda and Kevin have settled into a new normal as they relearn eating and dietary habits. “I now eat six to eight small meals a day,” says Linda. She watches her dairy and sugar intake to avoid “dumping syndrome,” which brings a host of digestive symptoms. While Linda has adjusted well, Kevin has had several hospitalizations for chronic hiccups and drastic weight loss.
“It took a while, but his doctors have finally found the perfect cocktail of medications and nutrition,” says Linda.
Dr. Lee noted that Linda’s pre-surgical tests showed no signs of gastric cancer. Pathology results following surgery, however, revealed early stages of the disease. If Linda’s mutation had not been discovered, the cancer may have grown and potentially spread. Genetic testing and surgery saved her life.
The Next Generation
Linda considers herself lucky. She has a positive attitude and a strong faith. “Finding out my kids carry this cancer gene has been the hardest part,” she says of her challenging year. As her children move forward, making difficult decisions about their bodies and their future families, Linda is heartened to know they are not alone. TriHealth is by their side.