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. 2015 Nov 23;108(4):djv362. doi: 10.1093/jnci/djv362

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).