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Am J Hum Genet. 2012 Aug 10;91(2):379-83. doi: 10.1016/j.ajhg.2012.06.019. Epub 2012 Aug 2.

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

Author information

1
Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA.

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.

PMID:
22863192
PMCID:
PMC3415553
DOI:
10.1016/j.ajhg.2012.06.019
[Indexed for MEDLINE]
Free PMC Article

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