Gynecologic manifestations of hereditary nonpolyposis colorectal cancer. From inherited to sporadic disease

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant cancer susceptibility syndrome associated with inherited defects in the DNA mismatch repair system. HNPCC family members are at high risk for developing colorectal, endometrial, and ovarian cancers. Studies of HNPCC families have helped define the important role that mismatch repair genes play in the molecular pathogenesis of endometrial and ovarian cancers. This review will describe some of the important clinical and molecular features of HNPCC-related endometrial and ovarian cancer and describe how genetic susceptibility can be identified in patients with sporadic endometrial and ovarian cancers. It is important to identify patients with HNPCC, as families of mutation carriers may benefit from genetic counseling, testing, and intensified cancer surveillance.