Rare de novo germline copy-number variation in testicular cancer

Zsofia K. Stadler, Diane Esposito, Sohela Shah, Joseph Vijai, Boris Yamrom, Dan Levy, Yoon Ha Lee, Jude Kendall, Anthony Leotta, Michael Ronemus, Nichole Hansen, Kara Sarrel, Rohini Rau-Murthy, Kasmintan Schrader, Noah Kauff, Robert J. Klein, Steven M. Lipkin, Rajmohan Murali, Mark Robson, Joel SheinfeldDarren Feldman, George Bosl, Larry Norton, Michael Wigler, Kenneth Offit

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


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.

Original languageEnglish
Pages (from-to)379-383
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number2
StatePublished - 10 Aug 2012
Externally publishedYes


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