Linked Life Data

20381334

Source:http://linkedlifedata.com/resource/pubmed/id/20381334

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2010-6-14
pubmed:abstractText
The human genome is subject to substantial structural variation, including copy number variation (CNV). Constitutional CNVs may either represent benign polymorphic variants or be associated with disease, including cancer predisposition. Rare nonpolymorphic CNVs, that is DNA lesions that result in gene deletions, inversions, and/or fusions, may be responsible for a high cancer risk. In addition, we previously elucidated a mechanism by which CNV-based transcriptional read-through mediates inactivation of a neighboring gene through in cis hypermethylation of its promoter. This novel mechanism explains the etiology of a recurrent and strongly inherited tissue-restricted epimutation. Recently, we obtained supporting evidence for such a CNV-associated scenario, suggesting that it may be more prevalent than previously thought. We expect that copy number profiling in unexplained high-risk families will lead to the discovery of additional cancer-predisposing genes and/or mechanisms.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1879-0380
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
282-9
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Germline copy number variation and cancer risk.
pubmed:affiliation
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences, Nijmegen, The Netherlands. r.kuiper@antrg.umcn.nl
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't