Rare de novo germline copy-number variation in testicular cancer. Academic Article uri icon



  • 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.

publication date

  • August 2, 2012



  • DNA Copy Number Variations
  • Genetic Predisposition to Disease
  • Genomics
  • Germ-Line Mutation
  • Testicular Neoplasms


PubMed Central ID

  • PMC3415553

Scopus Document Identifier

  • 84864944125

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2012.06.019

PubMed ID

  • 22863192

Additional Document Info


  • 91


  • 2