Companion Diagnostics

EGFR Mutations in Liquid Biopsies

The first CE-IVD test for EGFR Mutations in liquid biopsies

The cobas® EGFR Mutation Test v2 CE-IVD, identifies the epidermal growth factor receptor (EGFR) gene in the DNA from non-small cell lung cancer (NSCLC) patients and is intended to be used as an aid in selecting patients with NSCLC for therapy with an EGFR tyrosine kinase inhibitor (TKI).

EGFR mutational analysis by Real-Time PCR

Approximately 10% of patients with NSCLC in the US and 35% in East Asia have tumor associated EGFR mutations. These mutations occur within EGFR exons 18–21, which encodes a portion of the EGFR kinase domain (Figure 1). EGFR mutations are usually heterozygous, with the mutant allele also showing gene amplification. Approximately 90% of these mutations are exon 19 deletions or exon 21 L858R point mutations. These mutations increase the kinase activity of EGFR, leading to hyperactivation of downstream pro-survival signaling pathways.

BRACAnalysis CDx - Myriad

BRACAnalysis CDx™ (FDA approved BRCA1/2 test) is the companion diagnostic test intended to be used as an aid in treatment decision making for Lynparza™ (olaparib).1


ALK rearrangement by F.I.S.H.

A group of patients with non-small cell lung cancer (NSCLC) have tumors that contain an inversion in chromosome 2 that juxtaposes the 5' end of the echinoderm microtubule-associated protein-like 4 (EML4) gene with the 3' end of the anaplastic lymphoma kinase (ALK) gene, resulting in the novel fusion oncogene EML4-ALK. This fusion oncogene rearrangement is transforming both in vitro and in vivo and defines a distinct clinicopathologic subset of NSCLC.

BRAF mutation analysis


BRAF belongs to a family of serine-threonine protein kinases that includes ARAF, BRAF, and CRAF (RAF1). RAF kinases are central mediators in the MAP kinase signaling cascade and exert their effect predominantly through phosphorylation and activation of MEK. This occurs following the dimerization (hetero- or homo-) of the RAF molecules. As part of the MAP kinase pathway, RAF is involved in many cellular processes, including cell proliferation, differentiation, and transcriptional regulation.