The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
Open accessAbstract
PURPOSE: Germ-line testing for panels of cancer genes using next-generation sequencing is becoming more common in clinical care. We report our experience as a clinical laboratory testing both well-established, high-risk cancer genes (e.g., BRCA1/2, MLH1, MSH2) as well as more recently identified cancer genes (e.g., PALB2, BRIP1), many of which have increased but less well-defined penetrance. METHODS: Clinical genetic testing was performed on over 10,000 consecutive cases referred for evaluation of germ-line cancer genes, and results were analyzed for frequency of pathogenic or likely pathogenic variants, and were stratified by testing panel, gene, and clinical history. RESULTS: Overall, a molecular diagnosis was made in 9.0% of patients tested, with the highest yield in the Lynch syndrome/colorectal cancer panel. In patients with breast, ovarian, or colon/stomach cancer, positive yields were 9.7, 13.4, and 14.8%, respectively. Approximately half of the pathogenic variants identified in patients with breast or ovarian cancer were in genes other than BRCA1/2. CONCLUSION: The high frequency of positive results in a wide range of cancer genes, including those of high penetrance and with clinical care guidelines, underscores both the genetic heterogeneity of hereditary cancer and the usefulness of multigene panels over genetic tests of one or two genes.Genet Med 18 8, 823-832.
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Metadata
- Authors
- Susswein, L. R., Marshall, M. L., Nusbaum, R., Vogel Postula, K. J., Weissman, S. M., Yackowski, L., Vaccari, E. M., Bissonnette, J., Booker, J. K., Cremona, M. L., Gibellini, F., Murphy, P. D., Pineda-Alvarez, D. E., Pollevick, G. D., Xu, Z., Richard, G., Bale, S., Klein, R. T., Hruska, K. S., & Chung, W. K.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2016-08
- Volume
- 18
- Issue
- 8
- Pages
- 823-832
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2256432617
- Cited by
- 287
- References
- 33
- FWCI
- 15.01
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Susswein, L. R., Marshall, M. L., Nusbaum, R., Vogel Postula, K. J., Weissman, S. M., Yackowski, L., Vaccari, E. M., Bissonnette, J., Booker, J. K., Cremona, M. L., Gibellini, F., Murphy, P. D., Pineda-Alvarez, D. E., Pollevick, G. D., Xu, Z., Richard, G., Bale, S., Klein, R. T., Hruska, K. S., & Chung, W. K. (2016). Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genetics in Medicine. https://doi.org/10.1038/gim.2015.166
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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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