The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study
Open accessAbstract
Objective: Patients diagnosed with colorectal cancer before the age of 50 years are recommended for Lynch syndrome (LS) testing according to current clinical guidelines. However, many patients are not identified because of the stringent guidelines on existing diagnostic criteria. The aim of this analysis was to evaluate the ability of existing criteria to adequately ascertain patients appropriate for LS genetic testing. Method: To determine whether existing clinical diagnostic criteria underascertain individuals who would be appropriate candidates for hereditary cancer risk assessment, we stratified the detection rate of deleterious mismatch repair (MMR) mutations in 9,109 patients with a personal history of colorectal cancer who were diagnosed between the ages of 30 and 74 years with little or no family history suggestive of LS by 5-year age-at-detection intervals. Results: There was little difference in the aggregate positive mutation rate in individuals diagnosed between the ages of 50 and 59 years compared to the positive mutation rate in patients diagnosed before the age of 50 years. Conclusion: These results suggest that cancer diagnosis under the age of 50 years is an insufficiently sensitive predictor of hereditary cancer susceptibility.
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Ribic, C. M., Sargent, D. J., Moore, M. J., Thibodeau, S. N., French, A. J., Goldberg, R. M., Hamilton, S. R., Laurent-Puig, P., Gryfe, R., Shepherd, L. E., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa022289 · Cited by 2,160
Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., et al. (2009) · Nature Genetics · doi:10.1038/ng.283 · Cited by 818
The Family History — More Important Than Ever
Guttmacher, A. E., Collins, F. S., & Carmona, R. H. (2004) · New England Journal of Medicine · doi:10.1056/nejmsb042979 · Cited by 497
Cited by
PD-1 Blockade in Tumors with Mismatch-Repair Deficiency
Le, D. T., Uram, J. N., Wang, H., Bartlett, B. R., Kemberling, H., Eyring, A. D., Skora, A. D., Luber, B. S., Azad, N. S., Laheru, D., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1500596 · Cited by 9,377
Comprehensive molecular characterization of human colon and rectal cancer
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11252 · Cited by 8,499
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade
Le, D. T., Durham, J. N., Smith, K. N., Wang, H., Bartlett, B. R., Aulakh, L. K., Lu, S., Kemberling, H., Wilt, C., Luber, B. S., et al. (2017) · Science · doi:10.1126/science.aan6733 · Cited by 6,645
The consensus molecular subtypes of colorectal cancer
Guinney, J., Dienstmann, R., Wang, X., de Reyniès, A., Schlicker, A., Soneson, C., Marisa, L., Roepman, P., Nyamundanda, G., Angelino, P., et al. (2015) · Nature Medicine · doi:10.1038/nm.3967 · Cited by 5,170
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden
Chalmers, Z. R., Connelly, C. F., Fabrizio, D., Gay, L., Ali, S. M., Ennis, R., Schrock, A., Campbell, B., Shlien, A., Chmielecki, J., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0424-2 · Cited by 3,519
Metadata
- Authors
- Landon, M., Saam, J., Brown, K. L., Moyes, K., Evans, B., & Wenstrup, R.
- Venue
- Oncology
- Publisher
- S. Karger AG
- Published
- 2015
- Volume
- 89
- Issue
- 4
- Pages
- 221-226
- ISSN
- 0030-2414 (ISSN-L)
- 1423-0232
- OpenAlex
- W1504535992
- Cited by
- 1,939
- References
- 3
- FWCI
- 150.73
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Landon, M., Saam, J., Brown, K. L., Moyes, K., Evans, B., & Wenstrup, R. (2015). Lynch Syndrome Patients with Limited Family History Identified in a Laboratory Setting: A Descriptive Study. Oncology. https://doi.org/10.1159/000430097
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
