Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening

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• 作者：Anne M. Mills ; MD^a ; Teri A. Longacre ; MD^b ; ^{longacre@stanford.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Lynch syndrome ; Hereditary nonpolyposis cancer syndrome ; Mismatch repair proteins ; Microsatellite instability ; Endometrial cancer ; Ovarian cancer
• 刊名：Surgical Pathology Clinics
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：9
• 期：2
• 页码：201-214
• 全文大小：8070 K

文摘

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.