Lynch syndrome is an inherited genetic disorder linked to an increased risk of developing cancer, often at a younger age in life—especially colorectal cancer, and, for women, endometrial cancer. While those are the most common types of cancer associated with the disorder, it is also tied to a greater lifetime risk of other types of cancer as well, including stomach, small intestine, liver, ovarian, upper urinary tract, gallbladder ducts, brain, and skin.
Not everyone with Lynch syndrome will inevitably develop cancer. Your risk depends, in part, on which of the five Lynch syndrome-responsible genes has the inherited genetic defect and the types of cancer that have been diagnosed throughout your family’s medical history. For perspective, Lynch syndrome accounts for about 3 percent of colorectal cancers and 2 percent of endometrial cancers.
Lynch syndrome is one of the few “Tier 1 genomic conditions” included in a list that the Centers for Disease Control and Prevention (CDC) promotes as genetic conditions that can and should be monitored to improve or prevent health issues. The earlier a person is aware of the condition, the more opportunities exist to take preventative actions to reduce the risk of developing cancer. Genetic testing for Lynch syndrome is recommended for people with an immediate family member who has been diagnosed with it, as well as for those who have a family history of early cancer diagnoses or clustering of some cancer types.
“Genetic testing is key in evaluating patients who are at risk for an inherited cancer syndrome, such as Lynch syndrome. Mutations in particular genes are linked to specific cancer risks,” says Xavier Llor, MD, medical director of the Yale Medicine Smilow Screening & Prevention Program.
“There are screening and cancer preventive strategies that have been proven to decrease cancer-related disease and death in these cases. It is key to proceed with genetic testing so these strategies can be implemented when a mutation is found,” Dr. Llor says.
At Yale Medicine, our medical care teams help families navigate the options available, including advising patients on the appropriate cancer screening procedures and whether more invasive preventative actions, such as surgery, should be considered.