Rare de novo germline copy-number variation in testicular cancer.


Journal Article

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.

Full Text

Cited Authors

  • Stadler, ZK; 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, RJ; Lipkin, SM; Murali, R; Robson, M; Sheinfeld, J; Feldman, D; Bosl, G; Norton, L; Wigler, M; Offit, K

Published Date

  • August 2, 2012

Published In

Volume / Issue

  • 91 / 2

Start / End Page

  • 379 - 383

PubMed ID

  • 22863192

Pubmed Central ID

  • 22863192

Electronic International Standard Serial Number (EISSN)

  • 1537-6605

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2012.06.019


  • eng