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EGFR G724S
GeneEGFR
Variantmissense
Amino Acid ChangeG724S
DNA Change (Coding Nucleotide)2170G>A
Transcript ID (GRCh37/hg19)ENST00000275493
Codon724
Exon18
Genomic Coordinates (GRCh37/hg19)7:55241722-55241722
COSMIC ID13979
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 1
EGFR
Variants
EGFR S768I
EGFR G724S
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Squamous Cell Carcinoma
Interpretation

Somatic mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene are present in approximately 80% of the lung adenocarcinomas that respond to first and second generation EGFR tyrosine kinase inhibitors (eg, gefitinib, erlotinib and afatinib). Two types of mutations account for approximately 80-90% of all EGFR mutations: short in-frame deletions in Exon 19 and a point mutation in exon 21 at codon 858 (L858R). Other less common mutations in exons 18, 20, and 21 are found in 10-20% of EGFR-mutated cases. EGFR Exon 19 deletions, EGFR Exon 21 L858R and EGFR Exon 18 G719 mutations correlate strongly with sensitivity to specific EGFR inhibitors and the response rate to therapy with TKIs has been reported to be up to 80% in such cases. EGFR S768I (exon 20) occurs in 1–2% of EGFR mutant lung cancers and is often coincident with other EGFR mutations. EGFR S768I is reported to be sensitive to EGFR-TKIs. EGFR G724S (exon 18) is very rare and its significance is unknown.

Last updated: 2016-05-05 13:32:06 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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