The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer
Open accessAbstract
BACKGROUND: The identification of mutations in germ-line DNA mismatch-repair genes at the time of diagnosis of colorectal cancer is important in the management of the disease. METHODS: Without preselection and regardless of family history, we recruited 870 patients under the age of 55 years soon after they received a diagnosis of colorectal cancer. We studied these patients for germ-line mutations in the DNA mismatch-repair genes MLH1, MSH2, and MSH6 and developed a two-stage model by multivariate logistic regression for the prediction of the presence of mutations in these genes. Stage 1 of the model incorporated only clinical variables; stage 2 comprised analysis of the tumor by immunohistochemical staining and tests for microsatellite instability. The model was validated in an independent population of patients. We analyzed 2938 patient-years of follow-up to determine whether genotype influenced survival. RESULTS: There were 38 mutations among the 870 participants (4 percent): 15 mutations in MLH1, 16 in MSH2, and 7 in MSH6. Carrier frequencies in men (6 percent) and women (3 percent) differed significantly (P<0.04). The addition of immunohistochemical analysis in stage 2 of the model had a sensitivity of 62 percent and a positive predictive value of 80 percent. There were 35 mutations in the validation series of 155 patients (23 percent): 19 mutations in MLH1, 13 in MSH2, and 3 in MSH6. The performance of the model was robust among a wide range of cutoff probabilities and was superior to that of the Bethesda and Amsterdam criteria for hereditary nonpolyposis colorectal cancer. Survival among carriers was not significantly different from that among noncarriers. CONCLUSIONS: We devised and validated a method of identifying patients with colorectal cancer who are carriers of mutations in DNA repair genes. Survival was similar among carriers and noncarriers.
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Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
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Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
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Tumor Microsatellite Instability and Clinical Outcome in Young Patients with Colorectal Cancer
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Cancer risk in mutation carriers of DNA-mismatch-repair genes
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Microsatellite Instability in Colorectal Cancer
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DNA repair mechanisms in dividing and non-dividing cells
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Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
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Clinical-Grade Detection of Microsatellite Instability in Colorectal Tumors by Deep Learning
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Metadata
- Authors
- Barnetson, R. A., Tenesa, A., Farrington, S. M., Nicholl, I. D., Cetnarskyj, R., Porteous, M. E., Campbell, H., & Dunlop, M. G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2006-06-29
- Volume
- 354
- Issue
- 26
- Pages
- 2751-2763
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2170554644
- Cited by
- 477
- References
- 31
- FWCI
- 25.41
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Barnetson, R. A., Tenesa, A., Farrington, S. M., Nicholl, I. D., Cetnarskyj, R., Porteous, M. E., Campbell, H., & Dunlop, M. G. (2006). Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer. New England Journal of Medicine. https://doi.org/10.1056/nejmoa053493
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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