A story of a how a special patient taught me the importance of screening for cancer in family histories and how we apply those skills for our patients at ORM
By Leslie Evans, MS, CGC; PGD Program Manager
Eighteen years ago, I met a special patient named Martha. Martha, a tough Texan in her late 50s, was married and had two kids, each with at least one of their own children. She and several other members of her family were affected by a hereditary form of colon cancer called Lynch syndrome, also called hereditary non-polyposis colorectal cancer (HNPCC). But it wasn’t Martha’s diagnosis that made her special; Martha let me see the inside of her colon.
Now, I remember Martha, but Martha probably doesn’t remember me. Dozens of students rotating through MD Anderson Cancer Center pursuing a medical degree had seen her colon before me, and I’m sure dozens saw it after me at one of her biannual colonoscopies. She loved to help educate the next generation of doctors, nurses and, of course, my fellow genetic counselors, by giving them a front row seat to see her unique colon that almost always would have one potentially pre-cancerous colon polyp ripe for removal. It was important for Martha to be an example of how frequent colonoscopies were absolutely essential for patients with Lynch syndrome to help reduce the risk of developing colon cancer. On the morning I met Martha, she had three polyps.
The doctor who lassoed and snared each of these polyps was Dr. Patrick Lynch, son of Dr. Henry T. Lynch, who was among the first physicians to describe this hereditary form of colon cancer. As Dr. Lynch carefully explored each curve and crevasse of Martha’s colon, he described how Lynch syndrome is inherited, the associated cancer risks, and the recommended screening guidelines.
While I don’t remember the specifics about Martha’s family history, she described how cancer, mostly colon cancer, had affected family members from her generation and past generations going back as far as they had researched their family tree. Many had passed away at a young age when they were “filled with cancer” to the point where nobody knew where the cancer had actually first taken root.
A multigenerational condition
Lynch syndrome is typically a multigenerational condition, where parents can pass a genetic mutation onto their children, predisposing them to certain cancers. While colon cancer is the most prevalent cancer observed, other tissues where cancers can start include the gastral intestinal tract, liver, gallbladder, urinary tract, brain, and skin. Women with Lynch syndrome also have an increased risk for cancer of the ovaries and lining of the uterus (endometrial cancer). There is some new evidence emerging that certain mutations in certain genes that cause Lynch syndrome may also increase the risk for breast cancer, too.
Most cancer is not inherited. About 65-85% of all cases of colon cancer just happen by chance. However, when an individual develops colon cancer at a younger age (before the age of 50) or has a family history of Lynch syndrome-related cancer in the family, they may be at risk for a hereditary form of colon cancer. Lynch syndrome is the most common hereditary cancer syndrome, affecting about 1 in 280 people worldwide.
Martha’s younger brother was the first member of the family to have genetic testing for Lynch syndrome when he was diagnosed with colon cancer in his mid-40’s and shared his positive result with his family. Because his first-relatives (which includes parents, siblings and children) had a 50% risk to carry the same mutation that increases the risk for Lynch-associated cancers, Martha sought genetic counseling and ultimately decided to pursue genetic testing.
After she discovered that she also had Lynch syndrome, which is associated with a 52-82% risk of developing colon cancer, Martha’s doctor recommended that she have annual colonoscopies with the option of screening every six months if polyps are found. The general population guidelines for colon cancer screening is every 10 years starting at the age of 50. Precancerous polyps occur more frequently in patients with Lynch syndrome. Thus, increased surveillance ideally starting at an earlier age is a patient’s best chance to prevent colon cancer.
Because the endometrial cancer risk in females with Lynch syndrome is 25-60%, her doctor also recommended that she consider endometrial cancer surveillance, although screening for endometrial cancer is not as efficacious as screening for colon cancer. Screening for other Lynch syndrome-associated cancers also has limited data on their effectiveness, so patients are often educated on the signs and symptoms of each type of cancer.
Martha dutifully followed all of her doctor’s screening recommendations and looked for signs and symptoms of cancer. She seemed empowered by being proactive and not to let her diagnosis control her life. She did worry about her two children in their 20’s, however, each with a 50% risk of having Lynch syndrome, who had not yet met with a genetic counselor to discuss whether or not they wanted genetic testing.
ORM takes family history of cancer seriously
The physicians and genetic counselors at ORM thank women like Martha who stressed the importance of screening our patients for hereditary cancer syndromes. We carefully document where the cancer started, age of cancer diagnosis, and map out how the family member affected by the cancer is related to our patient with a three-generation pedigree. Thus, it is important for patients to get as much detail as possible about their family history of cancer prior to their visit.
If your family history is suspicious for a hereditary cancer syndrome, we can refer you to a local genetic counselor or telehealth genetics service with hereditary cancer expertise. Genetic counseling is an important step not only to explore if genetic testing is an appropriate option, but also to explore the emotional aspects of being tested for an inherited condition. If genetic testing is warranted and pursued, the cancer specialist will discuss recommended screening measures that you can take to catch the cancer at an earlier, more curable stage or surgical options that may prevent the cancer altogether.
We also can offer the option of preimplantation genetic diagnosis (PGD) for Lynch syndrome if there is a mutation identified. We have helped several patients with hereditary cancer syndromes have babies free of the genetic mutation known to cause the family predisposition to cancer. Contact us for a complimentary appointment at to discuss your options.
To read more about Lynch syndrome, follow this link to the Genetics Home Reference, a service of the National Library of Medicine (part of the National Institutes of Health, an agency of the U.S. Department of Health and Human Services).
March is National Colorectal Cancer Awareness Month! Be sure to help raise awareness about colon cancer by registering for an Undy Run/Walk event, hosted by the Colorectal Cancer Alliance, close to your town. Go to www.undyrunwalk.org for more information.
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