Ontology highlight
ABSTRACT:
SUBMITTER: Shlien A
PROVIDER: S-EPMC2516272 | biostudies-literature | 2008 Aug
REPOSITORIES: biostudies-literature
Shlien Adam A Tabori Uri U Marshall Christian R CR Pienkowska Malgorzata M Feuk Lars L Novokmet Ana A Nanda Sonia S Druker Harriet H Scherer Stephen W SW Malkin David D
Proceedings of the National Academy of Sciences of the United States of America 20080806 32
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 individuals harboring germline TP53 mutations. Known genetic determinants of LFS do not ...[more]