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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Article info
Publication history
Published online: April 12, 2016
Footnotes
Conflicts of Interest and Funding Statements: The authors have disclosed no significant relationships with or financial interest in any commercial companies pertaining to this article.
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© 2016 Elsevier Inc. All rights reserved.
