title: Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening.
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.
authors.affiliation: Department of Pathology, University of Virginia, 1215 Lee Street, P.O. Box 800214, Charlottesville, VA 22908, USA.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Mills
authors.affiliation: Department of Pathology, Stanford University School of Medicine, Room L235, 300 Pasteur Drive, Stanford, CA 94305, USA. Electronic address: longacre@stanford.edu.
authors.forename: Teri A
authors.initials: TA
authors.lastname: Longacre
mesh_terms: D019175:DNA Methylation / Q000235:genetics; D053843:DNA Mismatch Repair / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics; D055088:Early Detection of Cancer / Q000379:methods*; D016889:Endometrial Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005260:Female; D005833:Genital Neoplasms, Female / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D018095:Germ-Line Mutation; D006801:Humans; D055847:Lynch Syndrome II / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D053842:Microsatellite Instability; D000070957:MutL Protein Homolog 1 / Q000235:genetics; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D011379:Prognosis
chemical_list: D004273:DNA, Neoplasm; C501486:MLH1 protein, human; D000070957:MutL Protein Homolog 1
keywords: Endometrial cancer; Hereditary nonpolyposis cancer syndrome; Lynch syndrome; Microsatellite instability; Mismatch repair proteins; Ovarian cancer