Publisher: Karger
E-ISSN: 1424-859x|123|1-4|176-182
ISSN: 1424-8581
Source: Cytogenetic and Genome Research, Vol.123, Iss.1-4, 2009-03, pp. : 176-182
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Abstract
Recent studies have unveiled copy number variants (CNVs) as an important source of genetic variation. Many of these CNVs contain coding sequences, which have been shown to be dosage sensitive. Evidence is accumulating that certain CNVs have impact on susceptibility to human diseases such as HIV infection and autoimmune diseases, as well as on adaptability to environmental conditions or nutrition. The possible role and impact of CNVs on cancer development and progression is only now emerging. In this review we look into the role of CNVs and their associated genomic structural features in relation to the formation of chromosome alterations in cancer cells and evolutionary genomic plasticity, as well as the de novo occurrence of known or putative CNVs as somatic events during oncogenesis. The role of germline CNVs in cancer predisposition is still largely unexplored. A number of observations seem to warrant the importance of further studies to elucidate the impact of these variants in the early steps of carcinogenesis.
Related content
Copy number variation and mosaicism
Cytogenetic and Genome Research, Vol. 123, Iss. 1-4, 2009-03 ,pp. :
Chromosome copy number variation and breast cancer risk
Cytogenetic and Genome Research, Vol. 123, Iss. 1-4, 2009-03 ,pp. :
Copy number variation in metabolic phenotypes
Cytogenetic and Genome Research, Vol. 123, Iss. 1-4, 2009-03 ,pp. :
Array-based comparative genomic hybridization and copy number variation in cancer research
Cytogenetic and Genome Research, Vol. 115, Iss. 3-4, 2006-11 ,pp. :