| Colorectal cancer due to deficiency in DNA mismatch repair function: a review. | |
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MedLine Citation:
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PMID: 19851131 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Lynch syndrome (LS) is an autosomal dominant cancer predisposition syndrome attributable to deleterious germline mutations in mismatch repair (MMR) genes. The syndrome is typified by early-onset, frequently right-sided colorectal cancers (CRCs) with characteristic histologic features and tendency for multiplicity and an increased risk for extracolonic tumors at particular sites; it accounts for 1% to 5% of CRC. Deficient mismatch repair (dMMR) function manifests as immunohistochemically detectable absence of one or more MMR proteins and microsatellite instability (MSI). Approximately 15% of sporadic, noninherited CRC are characterized by high-level MSI, nearly always owing to transcriptional silencing of MLH1; these sporadic and LS cases exhibit considerable phenotypic overlap. Identification of CRC with dMMR is desirable to identify LS and because MSI status is prognostic and potentially predictive. This review will discuss the history of LS, the principles of MMR and MSI, the clinicopathologic features of LS-associated and sporadic high-level MSI CRC, the fundamentals of clinical testing for dMMR CRC, and the results of the Columbus-area Lynch syndrome study. We conclude with our approach to population-based LS screening based on institutional experience with nearly 2000 cases. |
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Authors:
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Andrew M Bellizzi; Wendy L Frankel |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Advances in anatomic pathology Volume: 16 ISSN: 1533-4031 ISO Abbreviation: Adv Anat Pathol Publication Date: 2009 Nov |
Date Detail:
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Created Date: 2009-10-23 Completed Date: 2010-01-05 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9435676 Medline TA: Adv Anat Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 405-17 Citation Subset: IM |
Affiliation:
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Department of Pathology, The Ohio State University Medical Center, Columbus, 43210-1218, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Colorectal Neoplasms, Hereditary Nonpolyposis
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genetics*,
pathology DNA Mismatch Repair / genetics* Female Humans Immunohistochemistry Male Microsatellite Instability Middle Aged |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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