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, PIG61, ERBB1, HER1, NISBD2, ERBB

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 +

Breast Carcinoma +

Lung Adenocarcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Gastric Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Melanoma +

Squamous Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Urothelial Carcinoma +

Hepatocellular Carcinoma +

Pancreatic Carcinoma +

Malignant Glioma +

Small Cell Lung Carcinoma +

Bladder Carcinoma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Lung Carcinoma +

Anaplastic Astrocytoma +

Gliosarcoma +

Cancer +

Endometrial Carcinoma +

Head And Neck Carcinoma +

Non-Hodgkin Lymphoma +

Renal Cell Carcinoma +

Ovarian Carcinoma +

Chordoma +

Glioma +

Malignant Central Nervous System Neoplasm +

Esophageal Squamous Cell Carcinoma +

Anaplastic Oligoastrocytoma +

Oropharyngeal Squamous Cell Carcinoma +

Colorectal Adenocarcinoma +

Diffuse Intrinsic Pontine Glioma +

Multiple Myeloma +

Nasopharyngeal Carcinoma +

Cholangiocarcinoma +

Cervical Carcinoma +

Medulloblastoma +

Sarcoma +

Prostate Carcinoma +

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 +

Diffuse Astrocytoma +

Carcinoma +

Lung Neuroendocrine Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Neuroendocrine Carcinoma +

Primary Peritoneal Carcinoma +

Anaplastic Oligodendroglioma +

Malignant Uterine Neoplasm +

Small Intestinal Carcinoma +

Classical Hodgkin Lymphoma +

Low Grade Glioma +

Oropharyngeal Carcinoma +

Anal Carcinoma +

Fallopian Tube Carcinoma +

Peritoneal Mesothelioma +

Gallbladder Carcinoma +

Chondrosarcoma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Cervical Squamous Cell Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Lymphoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Biliary Tract Carcinoma +

Hematologic And Lymphocytic Disorder +

Ovarian Carcinosarcoma +

Bile Duct Carcinoma +

Mesothelioma +

B-Cell Non-Hodgkin Lymphoma +

Uterine Carcinosarcoma +

Pecoma +

Kidney Carcinoma +

Ovarian Epithelial Tumor +

Thymic Carcinoma +

Soft Tissue Sarcoma +

Thyroid Gland Carcinoma +

Hematopoietic And Lymphoid System Neoplasm +

Neuroblastoma +

Hematopoietic And Lymphoid Malignancy +

High Grade Ovarian Serous Adenocarcinoma +

Osteosarcoma +

Primitive Neuroectodermal Tumor +

Liposarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Ewing Sarcoma +

Meningioma +

Gastrointestinal Stromal Tumor +

Rhabdomyosarcoma +

Uveal Melanoma +

Myeloid Neoplasm +

Myelodysplastic Syndromes +

Aggressive Systemic Mastocytosis +

Anal Canal Squamous Cell Carcinoma +

Bronchogenic Carcinoma +

Desmoid-Type Fibromatosis +

Ependymoma +

Malignant Supratentorial Neoplasm +

Mast Cell Leukemia +

Pancreatic Ductal Adenocarcinoma +

Pituitary Gland Carcinoma +

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

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.