Lynch syndrome in the gynecologic population

Lynch syndrome (LS) is caused by defects in mismatch repair genes and is inherited in an autosomal dominant fashion. The most common associated malignancies include colorectal cancer, endometrial cancer, and ovarian cancer. In females with LS, endometrial cancer is often the first identified malignancy, presenting gynecologists with an opportunity to intervene in order to prevent future cancers not only in the patient but also in family members. Universal testing of tumors using immunohistochemical techniques has emerged as a leading strategy to identify LS patients. In those found to have the syndrome, risk-reducing strategies including prophylactic hysterectomy and bilateral salpingo-oophorectomy are effective in preventing future gynecologic malignancies.