| Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome. | |
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MedLine Citation:
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PMID: 21273057 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Families at high risk for Lynch syndrome can effectively be recognised by microsatellite instability (MSI) testing. The aim of the present study is to compare the effectiveness of a MSI test for the identification of Lynch syndrome in patients selected by a pathologist mainly based on young age at diagnosis (MSI-testing-indicated-by-a-Pathologist; MIPA), with that of patients selected by a clinical geneticist mainly based on family history (MSI-testing-indicated-by-Family-History; MIFH). Patients with a Lynch syndrome associated tumour were selected using MIPA (n=362) or MIFH (n=887). Germline DNA mutation testing was performed in 171 out of 215 patients (80%) with a MSI positive tumour. MSI was tested positive in 20% of the MIPA-group group compared to 16% in the MIFH-group (P=0.291). In 91 of 171 patients with MSI positive tumours tested for germline mutations were identified as Lynch syndrome patients: 42% in the MIPA-group and 56% in the MIFH-group (P=0.066). Colorectal cancer (CRC) or endometrial cancer (EC) presenting at an age below 50years would have led to the diagnosis of Lynch syndrome in 89% of these families (CRC below 50years: 88% and EC below 50years: 12%). Families detected by MIPA were characterised more often by extracolonic Lynch syndrome associated malignancies, especially EC (P<0.001). Our results indicate that recognition of Lynch syndrome by CRC or EC below 50years is as effective as a positive family history. Families from patients selected by individual criteria more often harbour extracolonic Lynch syndrome associated malignancies. |
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Authors:
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P Manders; L Spruijt; C M Kets; H W Willems; D Bodmer; K M Hebeda; I D Nagtegaal; J H J M van Krieken; M J L Ligtenberg; N Hoogerbrugge |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-1-25 |
Journal Detail:
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Title: European journal of cancer (Oxford, England : 1990) Volume: - ISSN: 1879-0852 ISO Abbreviation: - Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2011-1-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9005373 Medline TA: Eur J Cancer Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2010 Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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