Allele-specific copy number analysis of tumors
Oslo University Hospital · Norwegian Cancer Society · +7 more institutions
Abstract
We present an allele-specific copy number analysis of the in vivo breast cancer genome. We describe a unique bioinformatics approach, ASCAT (allele-specific copy number analysis of tumors), to accurately dissect the allele-specific copy number of solid tumors, simultaneously estimating and adjusting for both tumor ploidy and nonaberrant cell admixture. This allows calculation of "ASCAT profiles" (genome-wide allele-specific copy-number profiles) from which gains, losses, copy number-neutral events, and loss of heterozygosity (LOH) can accurately be determined. In an early-stage breast carcinoma series, we observe aneuploidy (>2.7n) in 45% of the cases and an average nonaberrant cell admixture of 49%. By…
Citation impact
- FWCI
- 16.95
- Percentile
- 100%
- References
- 38
Authors
13- PVPeter Van LooCorresponding
Oslo University Hospital, Norwegian Cancer Society, VIB-KU Leuven Center for Cancer Biology, KU Leuven
- SNSilje Nord
University of North Carolina at Chapel Hill, Oslo University Hospital, UNC Lineberger Comprehensive Cancer Center
- OCOle Christian Lingjærde
University of Oslo
- HGHege G. Russnes
Oslo University Hospital, University of Oslo
- IHInga Hansine Rye
Oslo University Hospital
Topics & keywords
- Loss of heterozygosity
- Biology
- Allele
- Copy number analysis
- Breast cancer
- Gene duplication
- Genetics
- Copy-number variation
- Good health and well-being