Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
7p11.2
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Epidermal growth factor receptor
Synonyms [1]
mENA, HER1, NISBD2, ERBB, ERBB1, PIG61

EGFR (epidermal growth factor receptor, also known as ERBB1 and HER1) is a gene that encodes for the epidermal growth factor receptor protein. Missense mutations, deletions, and insertions are observed in cancers such as lung cancer and glioblastoma. Activating EGFR mutations increase the kinase activity of EGFR, leading to hyperactivation of downstream pro-survival signaling pathways (PMID: 15284455).

EGFR is altered in 6.83% of all cancers with lung adenocarcinoma, conventional glioblastoma multiforme, glioblastoma, breast invasive ductal carcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

EGFR GENIE Cases - Top Diseases

The most common alterations in EGFR are EGFR Mutation (5.48%), EGFR Amplification (2.59%), EGFR Exon 19 Mutation (1.75%), EGFR Exon 19 Deletion (1.57%), and EGFR Exon 21 Mutation (1.28%) [3].

EGFR GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of EGFR in Diseases

Non-Small Cell Lung Carcinoma +

Colorectal Carcinoma +

Malignant Solid Tumor +

Glioblastoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Lung Adenocarcinoma +

Gastric Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Malignant Glioma +

Melanoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Urothelial Carcinoma +

Squamous Cell Lung Carcinoma +

Bladder Carcinoma +

Pancreatic Carcinoma +

Small Cell Lung Carcinoma +

Esophageal Carcinoma +

Hepatocellular Carcinoma +

Lung Carcinoma +

Glioma +

Anaplastic Astrocytoma +

Gliosarcoma +

Gastric Adenocarcinoma +

Head And Neck Carcinoma +

Chordoma +

Malignant Central Nervous System Neoplasm +

Esophageal Squamous Cell Carcinoma +

Diffuse Astrocytoma +

Cancer +

Anaplastic Oligoastrocytoma +

Endometrial Carcinoma +

Colorectal Adenocarcinoma +

Diffuse Intrinsic Pontine Glioma +

Multiple Myeloma +

Nasopharyngeal Carcinoma +

Cholangiocarcinoma +

Cervical Carcinoma +

Medulloblastoma +

Ovarian Carcinoma +

Sarcoma +

Pancreatic Adenocarcinoma +

Malignant Salivary Gland Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Malignant Laryngeal Neoplasm +

Skin Squamous Cell Carcinoma +

Glioblastoma, IDH-Wildtype +

WHO Grade III Glioma +

Lip And Oral Cavity Carcinoma +

Oral Cavity Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Astrocytoma +

Carcinoma +

Lung Neuroendocrine Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Neuroendocrine Carcinoma +

Primary Peritoneal Carcinoma +

Anaplastic Oligodendroglioma +

Malignant Uterine Neoplasm +

Small Intestinal Carcinoma +

Low Grade Glioma +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Anal Carcinoma +

Gallbladder Carcinoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Cervical Squamous Cell Carcinoma +

Lymphoma +

Fallopian Tube Carcinoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Biliary Tract Carcinoma +

Ovarian Carcinosarcoma +

Bile Duct Carcinoma +

Mesothelioma +

B-Cell Non-Hodgkin Lymphoma +

Uterine Carcinosarcoma +

Renal Cell Carcinoma +

Kidney Carcinoma +

Ovarian Epithelial Tumor +

Thymic Carcinoma +

Soft Tissue Sarcoma +

Neuroblastoma +

High Grade Ovarian Serous Adenocarcinoma +

Prostate Carcinoma +

Primitive Neuroectodermal Tumor +

Meningioma +

Gastrointestinal Stromal Tumor +

Rhabdomyosarcoma +

Uveal Melanoma +

Anal Canal Squamous Cell Carcinoma +

Bronchogenic Carcinoma +

Ependymoma +

Malignant Supratentorial Neoplasm +

Pancreatic Ductal Adenocarcinoma +

Pituitary Gland Carcinoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

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

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