Ruth Gubernick heard what could have been the scariest sentence of her life: “You have cancer.”
These are words that would shake anyone’s soul, and Ruth was no different. At the age of 50, she learned she had endometrial cancer – a disease in which the lining of the upper part of the uterus becomes cancerous.
The news crushed Ruth, but she wasn’t completely surprised. Cancer was in her family. Her mother and grandmother had been diagnosed with endometrial cancer. In fact, her mother had also been diagnosed with colorectal and uretheral cancers.Ruth, now 54, swore then to fight it and she won. Her life was saved by a Cooper doctor – David P. Warshal, M.D., Director of the Gynecologic Cancer Center at Cooper.
But even though Ruth’s recovery had been excellent, Dr. Warshal was still concerned, especially since he knew Ruth’s sister had been diagnosed with colon cancer at age 38. To him, the pattern of cancer in her family was not a matter of bad luck or mere coincidence. He referred her to Cooper’s Cancer Genetics Program, which provides testing and counseling for people like Ruth.
“Whenever I filled out my medical history at a doctor’s office, I noted that I had all this cancer in the family,” Ruth said. “No other doctor paid attention to the fact that I had a family history of cancer. I had no idea there could be a connection between the colon and endometrial cancers until Dr. Warshal brought it up. For him, my family history of these cancers raised a red flag.”
All in the family
Certain gene mutations increased Ruth’s risk for several cancers – exponentially. Genetic testing done at Cooper revealed she carried a type of mutation known to cause a high risk for endometrial cancer. That same mutation has been linked to colorectal, stomach, kidney, urinary tract, brain and ovarian cancers. Ruth’s doctors explained to her that the cancer in the family was due to hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome.
People with HNPCC carry mutations in a number of different genes that normally help prevent cancer. These mutations change the genes and cause them to work improperly, which leads to an increased risk for small growths, or polyps, in the lining of the colon.
In people with HNPCC, these polyps can become cancerous very quickly. Some people may never have polyps but may still develop colon cancer. About 3 percent to 5 percent of the 150,000 cases of colon cancer diagnosed each year are related to HNPCC, according to the American Cancer Society.
People fitting into any of the following categories may be at risk and should be evaluated for HNPCC:
- Multiple relatives with colon, uterine or other HNPCC-associated cancers
- Anyone diagnosed with an HNPCC cancer younger than 50 years old
- Multiple cancers in the same person or multiple polyps, especially at a young age
“Ruth’s testing has been very helpful in designing a program of screening for her, as her test results helped us assess her risk for a variety of cancers such as colon, ureter and bladder,” said Generosa Grana, M.D., F.A.C.P., Director of the Cancer Institute of New Jersey (CINJ) at Cooper and Director of the Cancer Genetics Program. “Most importantly, it helped us put together a screening and prevention program so she can be proactive with her care.”
Ruth understands that she faces an 82 percent risk for colorectal, 13 percent risk for stomach and a 1 percent to 4 percent risk of other cancers. Compared with the general population, these numbers are very high. When Ruth was treated for her cancer, she had her uterus and ovaries removed. Women with HNPCC have up to a 60 percent risk for endometrial cancer and up to a 12 percent risk of developing ovarian cancer.
The results of Ruth’s genetic testing were not only important to her, but also for her children, siblings and other relatives. People with HNPCC have a 50 percent chance of passing the gene mutation to their children.
“If you test positive, then it becomes your responsibility to let everyone in your family know. You become the gatekeeper of this information,” says Dana Farengo Clark, M.S., a certified genetic counselor at the Cancer Genetics Program of the CINJ at Cooper. “Ruth has a genuine desire to spread the word and guide her family members through the process. She goes a step beyond what other people do. She calls her family members to get tested and to get screened. She’ll send them DVDs to help inform them about their risks.”
Ruth has a colonoscopy every year, and her daughter, 27, started her yearly screenings when she turned 25. This is a recommendation that experts suggest for people with HNPCC. People in the general population should get these yearly screenings starting at age 50.
Ruth is also screened closely by her Cooper doctors for other cancers, such as kidney and bladder, as well as annual mammograms to detect breast cancer.
“What’s most important to stress is that if we had stopped when we dealt with the uterine cancer, she would not have known she had to get screened more often for other cancers such as colon cancer or that her family was also at risk. If our focus had been on one cancer in isolation, we wouldn’t have done her a service,” Dr. Grana said.
For more information about our Cancer Risk Evaluation Center or to make an appointment with a Cooper University Hospital physician, please call (800) 8-COOPER.