Rare de novo germline copy-number variation in testicular cancer Journal Article


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"
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MSK Authors
  1. Kenneth Offit
    764 Offit
  2. Larry Norton
    734 Norton
  3. Mark E Robson
    644 Robson
  4. Noah Kauff
    128 Kauff
  5. Darren Richard Feldman
    310 Feldman
  6. Zsofia Kinga Stadler
    361 Stadler
  7. Joel Sheinfeld
    245 Sheinfeld
  8. Rajmohan Murali
    213 Murali
  9. Robert J. Klein
    63 Klein
  10. Vijai Joseph
    204 Joseph
  11. Sohela Shah
    15 Shah
  12. George Bosl
    428 Bosl
  13. Nichole Hansen
    9 Hansen
  14. Kara Lindsay Sarrel
    7 Sarrel