Lynch Syndrome: Genetic Disorder Raises Risk of Many Cancers

July 02, 2024

Scientist pipetting sample into tray for DNA testing in laboratory

Lynch syndrome is a genetic disorder that increases the risk of developing some types of cancer at a younger age. Most often associated with colorectal cancer and uterine cancer, the disorder affects roughly 1 in 300 people.

“Colon and uterine cancer are the two big ones, but there is a long list of cancers that can be caused by Lynch syndrome,” says University Hospitals oncologist/hematologist Sakti Chakrabarti, MD. He shares more.

Common Cancer Types

Lynch syndrome is caused by mutations in one of five genes: MLH1, MSH2, MSH6, PMS2 or EPCAM. A person’s cancer risk varies depending on which gene mutation is present. Not everyone with Lynch syndrome will develop cancer. But the risk is substantial because of a gene mutation that prevents cells from repairing damage, Dr. Chakrabarti says.

Cancers associated with Lynch syndrome include:

Ovarian
Stomach (gastric)
Small intestine
Urinary tract (kidney, ureter, bladder)
Biliary tract (liver, gall bladder, bile ducts)
Pancreatic
Prostate
Brain
Certain skin cancers

The Importance of Genetic Testing

A family history of Lynch syndrome-associated cancers is an important reason to get genetic testing for the disorder. If one parent has the genes, there’s a 50 percent chance that a child will inherit Lynch syndrome. “Children should be screened for this condition because the risk is very high,” Dr. Chakrabarti says.

Genetic testing also may be recommended for anyone who has had colorectal or uterine cancer before age 50, or who has had more than one Lynch syndrome-associated cancer.

Cancer Prevention & Screening

People with Lynch syndrome are urged to undergo preventive cancer screenings at an earlier age than usual. For example, colonoscopy screenings typically begin at age 45. For people with Lynch syndrome, screenings should begin around age 20 to 25, Dr. Chakrabarti says. The screening recommendations vary according to the results of genetic testing and family history:

A person with Lynch syndrome and a family history of colorectal cancer should be screened every three to five years starting in their 30s.
Women are advised to consider transvaginal ultrasound exam and uterine biopsy every year or two.
Preventive surgeries, such as hysterectomy or oophorectomy, can also help reduce a woman’s chances of developing uterine or ovarian cancers.

Dr. Chakrabarti says the development of immunotherapies to treat cancers associated with Lynch syndrome has been promising. Immunotherapy uses a patient’s immune system to attack cancer cells.

“As we’ve increasingly used immunotherapy over the last decade, we’ve found that patients with Lynch syndrome respond very well to it,” he says. “Lynch syndrome was not talked about 10 or 15 years ago, but the discovery of immunotherapy has made it an area of focus for the prevention and treatment of cancer.”