Introduction

Over 40,000 cases of endometrial cancer (EC) accounting for more than 7000 deaths occur in the United States each year (1). About 10-15% of these cases are found in family clusters, of which approx 7% will have a clear-cut hereditary etiology. The majority of hereditary EC cases are found in families with the Lynch syndrome, also called hereditary nonpolyposis colorectal cancer (HNPCC) syndrome (2,3). Other extracolonic cancers of the Lynch syndrome include carcinomas of the ovary, stomach,

From: Current Clinical Oncology: Molecular Pathology of Gynecologic Cancer Edited by: A. Giordano, A. Bovicelli, and R. Kurman © Humana Press Inc., Totowa, NJ

Fig. 1. Pedigrees of two Lynch syndrome families showing EC in the direct genetic lineage. (Republished by permission from ref. 75.)

small bowel, hepatobiliary tract, pancreas, breast, brain, and transitional cell carcinoma of the ureter and renal pelvis (4). Figure 1 shows two pedigrees that depict typical Lynch syndrome families with EC in the direct genetic lineage. The purpose of this chapter is to describe hereditary EC, its phenotypical features, molecular genetics, pathology, diagnosis, and management strategies.

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