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Surg Pathol Clin. 2016 Jun;9(2):201-14. doi: 10.1016/j.path.2016.01.004. Epub 2016 Apr 12.

Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.

Author information

1
Department of Pathology, University of Virginia, 1215 Lee Street, P.O. Box 800214, Charlottesville, VA 22908, USA.
2
Department of Pathology, Stanford University School of Medicine, Room L235, 300 Pasteur Drive, Stanford, CA 94305, USA. Electronic address: longacre@stanford.edu.

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:

Endometrial cancer; Hereditary nonpolyposis cancer syndrome; Lynch syndrome; Microsatellite instability; Mismatch repair proteins; Ovarian cancer

PMID:
27241104
DOI:
10.1016/j.path.2016.01.004
[Indexed for MEDLINE]

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