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. 2023 May 21;15(10):2855. doi: 10.3390/cancers15102855

Table 1.

Summarizes the most common genetic mutations in lung cancer and how they are commonly screened for in current clinical practice.

Genes Common Mutations Mutation Prevalence Screening Protocol
EGFR [5,6] Exon 19 deletion *
Exon 20 T790M
Exon 21 L858R *

(*: Present in 40% of patients)
Adenocarcinoma: 38%
Non-adenocarcinoma: 12%

Western: 10–15%
Asia: 30–40%
African-American: 20%

Male: 24%
Female: 44%
Direct DNA sequencing is the gold standard if sample is more than 50% tumor content. If not, PCR preferred.
MET [7,8,9,10] TPR-MET fusion
Exon 14 skip
c-MET-N375S
Adenosquamous carcinoma: 5%
Adenocarcinoma: 3%
Squamous cell carcinoma: 2%

Western: 12%
Asian: 1–4%
African-American: 10%
FISH assay is the gold standard; next-generation sequencing is reliable only for a high-level of MET gene amplification.
ALK [11,12] Fusion with:
-TMP3-TFG-CLTCL1
-ATIC-EML4 *

(*: Most common, ~30% of all ALK fusions)
Adenocarcinoma: 5%

Western: 5%
Asian: 5%
FISH assay is the gold stand; RT-PCR is also FDA-approved for only EML4-ALK fusion.
RET [13] RET-KIF5B fusion *
RET-CCDC6 fusion
RET-NCOA4 fusion

(*: Detected in EGFR inhibitor resistant cancers)
All NSCLC: 1.5%
Adenocarcinoma: 1.7%

Age > 60: 2.0%
Age < 60: 1.0%
Male: 0.9%
Female: 1.7%
Next-generation sequencing and FISH assays are comparable; however, FISH demonstrated lower sensitivity for RET-NCOA4 fusions
HER2 [14] Exon 20 12 bp insertion
Exon 20 L755S
Exon 20 G776C
Adenocarcinoma: 2–4% Mutation: next-generation sequencing,
Amplification: FISH,
Overexpression: IHC.