Table 2.
Gene copy number alterations: technical aspects and interpretation of the Comparative Genomic Hybridization array analyses
Alteration | Proposed technical considerations | Proposed interpretation depending on the type of gene | ||
---|---|---|---|---|
Type of alteration | Fold change* | Size of amplicon | Oncogene | Tumor suppressor gene |
DNA copy number gain | DNA copy number >2 and <6 for diploid tumors | No specific size to be considered | Not considered | Not considered |
Focal amplification | DNA copy number ≥ 6 for diploid tumors | ≤10 Mb† | Considered only if: known in the literature/ databases to be of theranostic interest Potentially validated by IHC |
Not considered |
Heterozygous deletion | 1 copy for diploid tumors | No specific size to be considered | Not considered | Considered only if associated to an inactivating mutation of the second allele or loss of the tumor suppressor protein validated by IHC |
Homozygous deletion | 0 copy for diploid tumors | No specific size to be considered | Not considered | Considered |
Somatic uniparental isodisomy | 2 identical copies for diploid tumors | No specific size to be considered | Not considered | Considered only if associated to an inactivating mutation of the remaining allele or loss of the tumor suppressor protein validated by IHC |
* Fold change to be interpreted by taking into account tumor cellularity and ploidy. IHC = immunohistochemistry.
†10Mb locus size include an average of 100 genes (1 gene per 100 Kb).