Stadler, Z. K., Esposito, D., Shah, S., Vijai, J., Yamrom, B., Levy, D., Lee, Y. H., Kendall, J., Leotta, A., Ronemus, M., Hansen, N. , Sarrel, K., Rau-Murthy, R., Schrader, K., Kauff, N., Klein, R., Lipkin, S., Murali, R., Robson, M., Sheinfeld, J., Feldman, D., Bosl, G., Norton, L., Wigler, M., Offit, K. (August 2012) Rare De Novo Germline Copy-Number Variation in Testicular Cancer. The American Journal of Human Genetics, 91 (2). pp. 379-383. ISSN 0002-9297
Abstract
Although heritable factors are an important determinant of risk of early-onset cancer, the majority of these malignancies appear to occur sporadically without identifiable risk factors. Germline de novo copy-number variations (CNVs) have been observed in sporadic neurocognitive and cardiovascular disorders. We explored this mechanism in 382 genomes of 116 early-onset cancer case-parent trios and unaffected siblings. Unique de novo germline CNVs were not observed in 107 breast or colon cancer trios or controls but were indeed found in 7% of 43 testicular germ cell tumor trios; this percentage exceeds background CNV rates and suggests a rare de novo genetic paradigm for susceptibility to some human malignancies.
| Item Type: | Paper |
|---|---|
| Subjects: | bioinformatics diseases & disorders > cancer bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification diseases & disorders bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > copy number variants |
| CSHL Authors: | |
| Communities: | CSHL Cancer Center Shared Resources > Instrumentation Service CSHL labs > Wigler lab CSHL Cancer Center Program > Cancer Genetics |
| Depositing User: | Matt Covey |
| Date: | 10 August 2012 |
| Date Deposited: | 18 Jan 2013 16:44 |
| Last Modified: | 14 Oct 2015 20:45 |
| PMCID: | PMC3415553 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/27051 |
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