Authors: | 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. J.; Lipkin, S. M.; Murali, R.; Robson, M.; Sheinfeld, J.; Feldman, D.; Bosl, G.; Norton, L.; Wigler, M.; Offit, K. |
Article Title: | Rare de novo germline copy-number variation in testicular cancer |
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. © 2012 The American Society of Human Genetics. |
Journal Title: | American Journal of Human Genetics |
Volume: | 91 |
Issue: | 2 |
ISSN: | 0002-9297 |
Publisher: | Cell Press |
Date Published: | 2012-08-10 |
Start Page: | 379 |
End Page: | 383 |
Language: | English |
DOI: | 10.1016/j.ajhg.2012.06.019 |
PROVIDER: | scopus |
PMCID: | PMC3415553 |
PUBMED: | 22863192 |
DOI/URL: | |
Notes: | --- - "Export Date: 4 September 2012" - "CODEN: AJHGA" - "Source: Scopus" |