The practice of universal screening for Lynch syndrome in newly diagnosed endometrial carcinoma

Health Sci Rep. 2018 Jun 14;1(7):e43. doi: 10.1002/hsr2.43. eCollection 2018 Jul.

Abstract

Background: Lynch syndrome (LS) accounts for 5% of all endometrial cancer (EC) cases and 4% of all lifetime risk of developing colorectal cancer. While current guidelines recommend LS screening for all patients with newly diagnosed colorectal cancer, there is no such guideline for screening patients with EC.

Discussion: This review addresses LS screening and discusses algorithms for testing patients in the setting of newly diagnosed EC.

Conclusion: The successful diagnosis of LS has important implications, including prevention of LS-associated cancers among relatives and immunotherapy recommendations for patients with advanced EC and loss of expression of mismatch repair immunohistochemistry and microsatellite instability positive following failure of traditional treatment.

Keywords: Lynch syndrome; endometrial cancer; hereditary nonpolyposis cancer syndrome; microsatellite instability; mismatch repair proteins.

Publication types

  • Review