title: High-resolution copy number analysis of paraffin-embedded archival tissue using SNP BeadArrays.
abstract: High-density SNP microarrays provide insight into the genomic events that occur in diseases like cancer through their capability to measure both LOH and genomic copy numbers. Where currently available methods are restricted to the use of fresh frozen tissue, we now describe the design and validation of copy number measurements using the Illumina BeadArray platform and the application of this technique to formalin-fixed, paraffin-embedded (FFPE) tissue. In fresh frozen tissue from a set of colorectal tumors with numerous chromosomal aberrations, our method measures copy number patterns that are comparable to values from established platforms, like Affymetrix GeneChip and BAC array-CGH. Moreover, paired comparisons of fresh frozen and FFPE tissues showed nearly identical patterns of genomic change. We conclude that this method enables the use of paraffin-embedded material for research into both LOH and numerical chromosomal abnormalities. These findings make the large pathological archives available for genomic analysis, which could be especially relevant for hereditary disease where fresh material from affected relatives is rarely available.
authors.affiliation: Department of Pathology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. j.oosting@lumc.nl
authors.forename: Jan
authors.initials: J
authors.lastname: Oosting
authors.forename: Esther H
authors.initials: EH
authors.lastname: Lips
authors.forename: Ronald
authors.initials: R
authors.lastname: van Eijk
authors.forename: Paul H C
authors.initials: PH
authors.lastname: Eilers
authors.forename: Károly
authors.initials: K
authors.lastname: Szuhai
authors.forename: Cisca
authors.initials: C
authors.lastname: Wijmenga
authors.forename: Hans
authors.initials: H
authors.lastname: Morreau
authors.forename: Tom
authors.initials: T
authors.lastname: van Wezel
mesh_terms: D002874:Chromosome Mapping / Q000379:methods; D015179:Colorectal Neoplasms / Q000235:genetics*; D005069:Evaluation Studies as Topic; D005260:Female; D018628:Gene Dosage / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male; D046228:Microarray Analysis / Q000379:methods*; D008863:Microspheres; D016612:Paraffin Embedding; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results; D012730:Sex Chromosomes / Q000235:genetics*; D014021:Tissue Preservation