It Runs In The Family


By Advertiser Sanford Health

If you have a family history of colon cancer or polyps, your risk of developing colon cancer is higher, and you may benefit from meeting with a genetic counselor to better understand your risk. While screening for colon cancer through colonoscopy usually begins at age 50, patients with an inherited genetic condition called Lynch syndrome have an increased risk of developing colon and other aggressive cancers at an early age.

“Cancer is always genetic, but it is not always hereditary,” explains Lior Borovik, MS, a certified genetic counselor at Sanford Health. “Cancer happens because of mutations in our genes. Most of the time, these mutations are not something a person was born with or inherited, but rather the mutation is something acquired due to environment, exposure, diet, lifestyle, age or other factors. However, Lynch syndrome is a hereditary condition where a patient inherited a genetic mutation increasing cancer risk.”

Understanding Lynch syndrome

There are five genes associated with Lynch syndrome, and a person only has to inherit one of the five genes to have the condition. This does not guarantee a person will develop cancer, but the risk is significantly higher.

“The genes associated with Lynch syndrome are called mismatch repair genes. Think of them as spell checkers. What they do is check the spelling, or mistakes, in other genes. If you have a mutation in one of these mismatch repair genes, then they aren’t repairing genes with mistakes and that causes more mutations in other genes, which can lead to cancer,” says Borovik.

“Depending on the gene inherited with Lynch syndrome, the risk of developing colon cancer can increase to anywhere from 15 percent up to 80 percent, as compared to 4 to 5 percent in the general population,” explains Borovik. “However, with Lynch syndrome, it’s not just the risk for colon cancer that increases. While colon and endometrial cancer are the main two cancers seen with Lynch syndrome, there is also an increased risk of ovarian cancer, stomach cancer, certain brain tumors, bile duct cancer, urinary tract cancer, cancer of the small intestines, pancreatic cancer and sebaceous cysts.”

Personalized patient care

A patient with Lynch syndrome is going to have to do more screenings and start at a younger age. Rather than starting colonoscopies at age 50, a patient with Lynch syndrome should start colonoscopies at age 25 to 30, or two to five years prior to the first case of colon cancer in the person’s family, then repeat screening every one to two years.

“Many patients are not aware that they should start colonoscopies earlier if they have a family history of colon cancer or other factors increasing risk,” says Borovik. “But, for example, if a patient had a parent who was diagnosed with colon cancer at age 65 or 70, and the patient is 40-something, the National Comprehensive Cancer Network guidelines recommend the patient start colonoscopies at age 40. That is without genetic testing, but based only on family history. We would recommend screening earlier because of the first degree relative with colon cancer.”

Borovik adds, “We are evaluating a variety of risk factors including types of cancer in the family, rare types of cancer, age of onset, number of family members who had polyps, how many polyps and ethnicity. These pieces of information are important because they can help us with our assessment to determine if a family might have hereditary cancer, such as Lynch syndrome or other hereditary colorectal cancer, and can influence when a patient should be screened.”

Genetic counselors also explain the implications of genetic testing. There are many issues to take into account when considering genetic testing: benefits and harms of testing; motivations for testing and expectations about the results; the impact of a positive, negative or inconclusive result and strategies for dealing with each; how testing may impact career, insurance and finances. For example, results may make it difficult to obtain life, disability or long-term care insurance.

Borovik concludes, “Genetic testing should be approached as a process undertaken with support from a chosen support person and the health care individuals involved. Once the results are known, they cannot be unknown again. It is best to consider as many aspects of the knowledge as possible ahead of time when deciding about genetic testing. 

By knowing if a patient has Lynch syndrome or a family history of colon cancer, doctors can better understand a patient’s disease risk, develop a personalized cancer screening schedule and determine if other family members would benefit from genetic testing.

To learn more, call (605) 312-GENE or visit

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