Endometrial cancer associated with defective DNA mismatch repair

Defective DNA mismatch repair is one of the most common and well-characterized genetic defects detected in endometrial cancer, occurring in approximately 20-25% of all cases.1 Defective DNA mismatch repair in endometrial cancer can be either inherited or acquired (sporadic). For women with inherited defective DNA mismatch repair, known as Lynch syndrome, the onset of endometrial cancer is usually at a younger age.This chapter describes the clinicopathologic significance of both acquired and inherited defective DNA mismatch repair in endometrial cancer. While there are fewer direct clinical implications for endometrial cancer patients with acquired defective DNA mismatch repair, there are significant clinical implications for patients with Lynch syndrome. This chapter also discusses the clinical management of women with Lynch syndrome.