Overview

Gene Location [1]
7p11.2
Pathway
Receptor tyrosine kinase/growth factor signaling
Variant Type
Deletion - In frame
Gene
EGFR

EGFR Exon 19 Deletion is present in 1.23% of AACR GENIE cases, with lung adenocarcinoma, non-small cell lung carcinoma, small cell lung carcinoma, and squamous cell lung carcinoma having the greatest prevalence [4].

Top Disease Cases with EGFR Exon 19 Deletion

Biomarker-Directed Therapies

Significance of EGFR Exon 19 Deletion in Diseases

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Lung Adenocarcinoma +

Breast Carcinoma +

Small Cell Lung Carcinoma +

Bladder Carcinoma +

Glioblastoma +

Melanoma +

Multiple Myeloma +

Lung Carcinoma +

Squamous Cell Lung Carcinoma +

Anaplastic Astrocytoma +

B-Cell Non-Hodgkin Lymphoma +

Biliary Tract Carcinoma +

Cervical Squamous Cell Carcinoma +

Colorectal Carcinoma +

Endometrial Carcinoma +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Lymphoma +

Malignant Salivary Gland Neoplasm +

Malignant Supratentorial Neoplasm +

Mesothelioma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Prostate Carcinoma +

Renal Cell Carcinoma +

Thymic Carcinoma +

Urothelial Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.