Lynch syndrome is the most common cause of hereditary colon cancer. Lynch syndrome is caused by a genetic mutation in one of many DNA mismatch repair genes.  When there is a mutation in these genes the risk of developing cancer greatly increases.  Lynch syndrome can be diagnosed through genetic testing.  The lifetime risk of developing colorectal cancer with Lynch syndrome is estimated to be up to 75%.  The most common type of other cancers in Lynch syndrome are endometrial, ovarian, urinary, and gastric.

Due to the increased risk of colon cancer in individuals with Lynch syndrome, guidelines have been established for screening.  Individuals with Lynch syndrome should undergo colon cancer screening beginning between the ages of 20-25, or 2-5 years before the youngest age of diagnosis of colorectal cancer in a family member, whichever is earlier.  The testing should be repeated every 1-2 years.  The second most common cancer in Lynch syndrome is endometrial cancer.  Women with Lynch syndrome should have an annual pelvic exam with endometrial sampling beginning between the ages of 30-35.  Women should also undergo annual screening for ovarian cancer with transvaginal ultrasound beginning between the ages of 30-35.  Other important screenings include for urinary cancer (annual urinalysis beginning between the ages of 30-35) and gastric cancer (screening with an esophagogastroduodenoscopy (EGD) is recommended beginning between the ages of 30-35 and repeated every 2-3 years thereafter).

If you have further questions or concerns about Lynch syndrome, please contact the office at 410-730-1000.