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Digestive Diseases and Sciences
Published in: Digestive Diseases and Sciences 12/2014

01-12-2014 | Editorial

Identifying Persons with Lynch Syndrome: Why and How?

Author: Uri Ladabaum

Published in: Digestive Diseases and Sciences | Issue 12/2014

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Excerpt

The promise of personalized medicine rests on individualized management with emphasis on the twin goals of prevention when possible, and treatment when necessary. In the case of Lynch syndrome (LS), the paradigm of identifying persons at high risk for serious disease, and intervening to improve outcomes, can be realized. …
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Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009;76:1–18.PubMedCentralPubMedCrossRef
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Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829–834.PubMedCrossRef
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Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261–269.PubMedCrossRef
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Burn J, Gerdes AM, Macrae F, et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet. 2011;378:2081–2087.PubMedCentralPubMedCrossRef
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Gould-Suarez M, El-Serag HB, Musher B, Franco LM, Chen GJ. Cost-effectiveness and diagnostic effectiveness analyses of multiple algorithms for the diagnosis of Lynch syndrome. Dig Dis Sci. (Epub ahead of print). doi:10.​1007/​s10620-014-3248-6.
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Ladabaum U, Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med. 2011;155:69–79.PubMedCentralPubMedCrossRef
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Mvundura M, Grosse SD, Hampel H, Palomaki GE. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med. 2010;12:93–104.PubMedCrossRef
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Dinh TA, Rosner BI, Atwood JC, et al. Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res. 2011;4:9–22.CrossRef
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Beamer LC, Grant ML, Espenschied CR, et al. Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results. J Clin Oncol. 2012;30:1058–1063.PubMedCentralPubMedCrossRef
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Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US multi-society task force on colorectal cancer. Am J Gastroenterol. 2014;109:1159–1179.PubMedCrossRef
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Metadata
Title
Identifying Persons with Lynch Syndrome: Why and How?
Author
Uri Ladabaum
Publication date
01-12-2014
Publisher
Springer US
Published in
Digestive Diseases and Sciences / Issue 12/2014
Print ISSN: 0163-2116
Electronic ISSN: 1573-2568
DOI
https://doi.org/10.1007/s10620-014-3407-9

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