EGFR MUTATION

EGFR Mutation — present in 15-30% of NSCLC adenocarcinoma, EGFR mutations are the prototype for precision oncology, with osimertinib as first-line therapy producing dramatic survival improvements.

Whole genome sequencing evaluates all EGFR mutations — exon 19 deletions, L858R, T790M, exon 20 insertions, and rare variants — providing comprehensive EGFR profiling for targeted therapy selection across multiple generations of EGFR TKIs.

EGFR

About this condition

EGFR Mutation

EGFR (epidermal growth factor receptor, chromosome 7p11.2) mutations are found in 15-30% of NSCLC adenocarcinoma (higher in never-smokers, Asian populations). The two most common activating mutations — exon 19 deletions (~45%) and L858R point mutation (~40%) — confer sensitivity to EGFR tyrosine kinase inhibitors (TKIs).

Osimertinib (Tagrisso), a third-generation EGFR TKI, is now first-line standard of care for EGFR-mutant advanced NSCLC based on FLAURA/FLAURA2 demonstrating significant overall survival improvement. Adjuvant osimertinib (after surgery) also significantly improves disease-free survival in resected EGFR-mutant NSCLC (ADAURA trial).

EGFR exon 20 insertions (~10% of EGFR mutations) are resistant to standard EGFR TKIs but now have targeted options: amivantamab (Rybrevant, EGFR/MET bispecific antibody) and mobocertinib. This mutation-specific treatment selection exemplifies how detailed molecular profiling — beyond simple 'EGFR positive/negative' — guides optimal therapy.

EGFR testing is mandatory for ALL non-squamous NSCLC before treatment initiation. Starting chemotherapy without EGFR results means potentially missing a targeted therapy that could add years to survival.

Gene locus: EGFR (7p11.2)

EGFR-mutant NSCLC patients live significantly longer with osimertinib than chemotherapy. Missing the EGFR mutation means missing the most effective treatment. WGS captures all EGFR variants from a single test.

Osimertinib as first-line EGFR-mutant NSCLC therapy dramatically improves survival — molecular testing is mandatory

FLAURA demonstrated osimertinib improved median overall survival by ~9 months versus first-generation EGFR TKIs in advanced EGFR-mutant NSCLC. Without EGFR molecular testing, patients receive chemotherapy instead — with substantially worse outcomes.

Exon 20 insertions are resistant to standard TKIs but responsive to amivantamab — precise mutation matters

Standard EGFR TKIs (erlotinib, gefitinib, osimertinib) do not work against exon 20 insertions. These patients need amivantamab or mobocertinib. Only detailed EGFR profiling distinguishes treatable exon 19/21 mutations from exon 20 insertions requiring different therapy.

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. 200+ physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Ships within 48 hours · Results in 6–8 weeks

Get my Genome Test