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]
PIG61, ERBB1, NISBD2, ERBB, mENA, HER1

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 6.02% of all cancers with lung adenocarcinoma, conventional glioblastoma multiforme, breast invasive ductal carcinoma, glioblastoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].

EGFR GENIE Cases - Top Diseases

The most common alterations in EGFR are EGFR Mutation (7.26%), EGFR Amplification (2.83%), EGFR Exon 19 Mutation (2.09%), EGFR Exon 19 Deletion (1.87%), and EGFR Exon 21 Mutation (1.62%) [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 +

Breast Carcinoma +

Lung Adenocarcinoma +

Gastric Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Melanoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Squamous Cell Lung Carcinoma +

Urothelial Carcinoma +

Hepatocellular Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Esophageal Carcinoma +

Bladder Carcinoma +

Malignant Glioma +

Small Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Lung Carcinoma +

Anaplastic Astrocytoma +

Endometrial Carcinoma +

Non-Hodgkin Lymphoma +

Renal Cell Carcinoma +

Ovarian Carcinoma +

Chordoma +

Gliosarcoma +

Head And Neck Carcinoma +

Glioma +

Malignant Central Nervous System Neoplasm +

Laryngeal Squamous Cell Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Cancer +

Colorectal Adenocarcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Cholangiocarcinoma +

Sarcoma +

Pancreatic Adenocarcinoma +

Prostate Carcinoma +

Anaplastic Oligoastrocytoma +

Cervical Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Malignant Salivary Gland Neoplasm +

Medulloblastoma +

Multiple Myeloma +

Nasopharyngeal Carcinoma +

Skin Squamous Cell Carcinoma +

Malignant Laryngeal Neoplasm +

Astrocytoma +

Anaplastic Oligodendroglioma +

Neuroendocrine Carcinoma +

Malignant Uterine Neoplasm +

Carcinoma +

Low Grade Glioma +

Oropharyngeal Carcinoma +

Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Biliary Tract Carcinoma +

Kidney Carcinoma +

Thyroid Gland Carcinoma +

Mesothelioma +

Bile Duct Carcinoma +

Ovarian Epithelial Tumor +

Myeloid Neoplasm +

High Grade Ovarian Serous Adenocarcinoma +

Aggressive Systemic Mastocytosis +

Anal Canal Squamous Cell Carcinoma +

Anal Carcinoma +

Bronchogenic Carcinoma +

Cervical Squamous Cell Carcinoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Diffuse Astrocytoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Ependymoma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Fallopian Tube Carcinoma +

Gallbladder Carcinoma +

Gastrointestinal Stromal Tumor +

Glioblastoma, IDH-Wildtype +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Hypopharyngeal Squamous Cell Carcinoma +

Lip And Oral Cavity Carcinoma +

Liposarcoma +

Malignant Supratentorial Neoplasm +

Mast Cell Leukemia +

Meningioma +

Myelodysplastic Syndromes +

Nasal Cavity And Paranasal Sinus Carcinoma +

Neuroblastoma +

Oral Cavity Carcinoma +

Osteosarcoma +

Ovarian Carcinosarcoma +

Pecoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Mesothelioma +

Pharyngeal Squamous Cell Carcinoma +

Pituitary Gland Carcinoma +

Primary Peritoneal Carcinoma +

Primitive Neuroectodermal Tumor +

Rhabdomyosarcoma +

Small Intestinal Carcinoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Thymic Carcinoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Ureter Carcinoma +

Uterine Carcinosarcoma +

Uveal Melanoma +

WHO Grade III Glioma +

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 6. 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.