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Surgical Pathology Clinics

Lynch Syndrome

Female Genital Tract Cancer Diagnosis and Screening
Published:April 12, 2016DOI:https://doi.org/10.1016/j.path.2016.01.004

      Abstract

      Lynch syndrome is responsible for approximately 5% of endometrial cancers and 1% of ovarian cancers. The molecular basis for Lynch syndrome is a heritable functional deficiency in the DNA mismatch repair system, typically due to a germline mutation. This review discusses the rationales and relative merits of current Lynch syndrome screening tests for endometrial and ovarian cancers and provides pathologists with an informed algorithmic approach to Lynch syndrome testing in gynecologic cancers. Pitfalls in test interpretation and strategies to resolve discordant test results are presented. The potential role for next-generation sequencing panels in future screening efforts is discussed.

      Keywords

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