The DOI matches its Crossref record; 37 of the 37 references it cites were found in a registry or an index.
Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer
Abstract
PURPOSE: Cancer morbidity and mortality can be dramatically reduced by colonoscopic screening of individuals with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, creating a need to identify HNPCC. We studied how HNPCC identification should be carried out on a large scale in a sensitive and efficient manner. PATIENTS AND METHODS: Colorectal cancer specimens from consecutive newly diagnosed patients were studied for microsatellite instability (MSI). Germline mutations in the MLH1 and MSH2 genes were searched for in MSI(+) individuals. RESULTS: Among 535 colorectal cancer patients, 66 (12%) were MSI(+). Among these, 18 (3.4% of the total) had disease-causing germline mutations in MLH1 or MSH2. Among these 18 patients, five were less than 50 years old, seven had a previous or synchronous colorectal or endometrial cancer, and 15 had at least one first-degree relative with colorectal or endometrial cancer. Notably, 17 (94%) of 18 patients had at least one of these three features, which were present in 22% of all 535 patients. Combining these data with a previous study of 509 patients, mutation-positive HNPCC accounts for 28 (2.7%) of 1,044 cases of colorectal cancer, predicting a greater than one in 740 incidence of mutation-positive individuals in this population. CONCLUSION: Large-scale molecular screening for HNPCC can be done by the described two-stage procedure of MSI determination followed by mutation analysis. Efficiency can be greatly improved by using three high-risk features to select 22% of all patients for MSI analysis, whereby only 6% need to have mutation analysis. Sensitivity is only slightly impaired by this procedure.
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Clues to the Pathogenesis of Familial Colorectal Cancer
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Self-citationTreatment of Colonic and Rectal Adenomas with Sulindac in Familial Adenomatous Polyposis
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Self-citationGenetic susceptibility to non-polyposis colorectal cancer
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Umar, A., Boland, C. R., Terdiman, J. P., Syngal, S., Chapelle, A. D. L., Ruschoff, J., Fishel, R., Lindor, N. M., Burgart, L. J., Hamelin, R., et al. (2004) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djh034 · Cited by 3,183
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W. (2015) · American Journal of Gastroenterology · doi:10.1038/ajg.2014.435 · Cited by 1,662
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
Hampel, H., Frankel, W. L., Martin, E., Arnold, M., Khanduja, K., Kuebler, P., Nakagawa, H., Sotamaa, K., Prior, T. W., Westman, J., et al. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa043146 · Cited by 1,408
Self-citationMicrosatellite Instability in Colorectal Cancer-the Stable Evidence
Vilar, E., & Gruber, S. B. (2010) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2009.237 · Cited by 1,063
Hampel, H., Frankel, W., Panescu, J., Lockman, J., Sotamaa, K., Fix, D., Comeras, I., La Jeunesse, J., Nakagawa, H., Westman, J. A., et al. (2006) · Cancer Research · doi:10.1158/0008-5472.can-06-1114 · Cited by 631
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Metadata
- Authors
- Salovaara, R., Loukola, A., Kristo, P., Kääriäinen, H., Ahtola, H., Eskelinen, M., Härkönen, N., Julkunen, R., Kangas, E., Ojala, S., Tulikoura, J., Valkamo, E., Järvinen, H., Mecklin, J.-P., Aaltonen, L. A., & de la Chapelle, A.
- Venue
- Journal of Clinical Oncology
- Published
- 2000-06-11
- Volume
- 18
- Issue
- 11
- Pages
- 2193-2200
- ISSN
- 0732-183X (ISSN-L)
- 1527-7755
- OpenAlex
- W1907599506
- Cited by
- 516
- References
- 37
- FWCI
- 22.44
- Type
- journal article
- Language
- en
- Open access
- closed
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- Salovaara, R., Loukola, A., Kristo, P., Kääriäinen, H., Ahtola, H., Eskelinen, M., Härkönen, N., Julkunen, R., Kangas, E., Ojala, S., Tulikoura, J., Valkamo, E., Järvinen, H., Mecklin, J.-P., Aaltonen, L. A., & de la Chapelle, A. (2000). Population-Based Molecular Detection of Hereditary Nonpolyposis Colorectal Cancer. Journal of Clinical Oncology. https://doi.org/10.1200/jco.2000.18.11.2193
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