Article
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 12 Aug 2008
Shlien Adam, Tabori Uri, Marshall Christian R, Pienkowska Malgorzata, Feuk Lars, Novokmet Ana, Nanda Sonia, Druker Harriet, Scherer Stephen W, Malkin David
Abstract excerpt
DNA copy number variations (CNVs) are a significant and ubiquitous source of inherited human genetic variation. However, the importance of CNVs to cancer susceptibility and tumor progression has not yet been explored. Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited disorder characterized by a strikingly increased risk of early-onset breast cancer, sarcomas, brain tumors and other neoplasms in...
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