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Table 1 Additional biologic information through analysis of genetic heterogeneity

From: Cancer heterogeneity: converting a limitation into a source of biologic information

Technique

Spatial heterogeneity within the primary tumor or within metastases

Temporal heterogeneity during cancer progression

SNP-array, CGH, LOH-microsatellite analysis

Lower detection threshold for structural chromosomal aberrations and tumor suppressor gene deletions

In the primary tumor: identification and differentiation of subclone lineages and of parallel evolution

In metastases: identification of conserved genes

Lower detection threshold for structural chromosomal aberrations and tumor suppressor gene deletions

Identification and differentiation of subclone lineages

Identification of positive and negative selective pressure for the presence or loss of genes and pathways

Identification of adaption mechanisms of the cancer genome under treatment

Gene specific Sanger-sequencing

Lower detection threshold for identification of driving mutations in the primary tumor: identification of subclones and of parallel evolution

Lower detection threshold for identification of driving mutations

Identification of subclones

Identification of positive selective pressure for gene mutations

Identification of adaptive mutations under treatment

NGS on pooled cells

Lower detection threshold for identification of driving mutations

Lower detection threshold for structural chromosomal aberrations and tumor suppressor gene deletions

In the primary tumor: identification and differentiation of subclone lineages

In metastases: identification of conserved genes and pathways

In addition: identification of adaptive mutations under treatment

NGS on single cells

Highest detection sensitivity for driving mutations, tumor suppressor gene deletions and structural chromosomal aberrations

Identification and differentiation of subclone lineages

Identification of conserved genes and pathways

In addition: lower detection threshold for identification of driving mutations

Identification of adaptive mutations under treatment

Sanger sequencing or NGS of liquid biopsy

–

Identification and differentiation of subclone lineages

Identification of adaptive mutations under treatment