NIH, National Cancer Institute, Division of Cancer Treatment and Diagnosis (DCTD) NIH - National Institutes of Health National Cancer Institute DCTD - Division of Cancer Treatment and Diagnosis

Reliable high-throughput genotyping and loss-of-heterozygosity detection in formalin-fixed,paraffin-embedded (FFPE) tumors using single nucleotide polymorphism arrays.

Author(s): Lips Esther H, Dierrsen Jan WF, van Eijk Ronald, Oosting Jan, Eilers Paul HC, Tollenaar Rob AEM, de Graaf Eelco J, van't Slot Ruben, Wijmenga Cisca, Morreau Hans, van Wenzel Tom

Publication: Cancer Res, 2005, Vol. 22, Page 10188

PubMed ID: 16288005 PubMed Review Paper? No

Purpose of Paper

To determine if genomic DNA isolated from formalin fixed paraffin embedded (FFPE) tissue is applicable for genotype and loss of heterozygosity (LOH) analysis via single nucleotide polymorphism (SNP) arrays.

Conclusion of Paper

Results of SNP and LOH analyses were nearly identical among FFPE and frozen specimens. The authors conclude that genome wide genotyping using FFPE tissue is reliable, producing results that are reproducible with frozen specimens.

Studies

  1. Study Purpose

    To determine if genomic DNA isolated from FFPE tissue is applicable for genotype and LOH analysis via SNP arrays (BeadArray and GeneChip).

    Summary of Findings:

    The occurrence of SNPs in FFPE and frozen matched controls were nearly identical (99.9%). Of the 8 LOH regions examined only 2 were not identical among FFPE and frozen specimens (located on chromosomes 3 and 8). Genotyping results were identical among the two SNP arrays (BeadArray and GeneChip).

    Biospecimens
    Preservative Types
    • Formalin
    • Frozen
    Diagnoses:
    • Neoplastic - Carcinoma
    • Normal
    Platform:
    AnalyteTechnology Platform
    DNA SNP assay
    Pre-analytical Factors:
    ClassificationPre-analytical FactorValue(s)
    Biospecimen Preservation Type of fixation/preservation Formalin (buffered)
    Snap frozen
    SNP assay Specific Detection method GeneChip
    BeadArray
  2. Study Purpose

    To validate results obtained by SNP analyses via DNA sequencing.

    Summary of Findings:

    DNA sequence analysis confirmed SNP results.

    Biospecimens
    Preservative Types
    • Formalin
    • Frozen
    Diagnoses:
    • Neoplastic - Carcinoma
    • Normal
    Platform:
    AnalyteTechnology Platform
    DNA DNA sequencing
    Pre-analytical Factors:
    ClassificationPre-analytical FactorValue(s)
    Biospecimen Preservation Type of fixation/preservation Formalin (buffered)
    Snap frozen

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