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

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 6.82% of all cancers with non-small cell lung carcinoma, malignant glioma, breast carcinoma, colorectal adenocarcinoma, and melanoma having the greatest prevalence of alterations [3].

EGFR GENIE Cases - Top Diseases

The most common alterations in EGFR are EGFR Mutation (7.26%), EGFR Mutation (germline) (7.26%), EGFR Mutation (somatic) (7.26%), EGFR Amplification (2.83%), and EGFR L858R (1.29%) [3].

EGFR GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of EGFR in Diseases

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Glioblastoma +

Breast Carcinoma +

Lung Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Glioma +

Non-Hodgkin Lymphoma +

Colorectal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Carcinoma +

Endometrial Carcinoma +

Multiple Myeloma +

Head And Neck Squamous Cell Carcinoma +

Urothelial Carcinoma +

Lymphoma +

Pancreatic Carcinoma +

Cancer +

Malignant Glioma +

Anaplastic Astrocytoma +

Lung Carcinoma +

Small Cell Lung Carcinoma +

Esophageal Carcinoma +

Melanoma +

Gliosarcoma +

Anaplastic Oligodendroglioma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Anaplastic Oligoastrocytoma +

Gastric Adenocarcinoma +

Malignant Brain Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Colorectal Adenocarcinoma +

Nasopharyngeal Carcinoma +

Hepatocellular Carcinoma +

Thymic Carcinoma +

Renal Cell Carcinoma +

Cholangiocarcinoma +

Thyroid Gland Carcinoma +

Meningioma +

Prostate Carcinoma +

Gastrointestinal Stromal Tumor +

Brain Metastasis +

Chordoma +

Hepatobiliary Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Lip And Oral Cavity Carcinoma +

Malignant Laryngeal Neoplasm +

Malignant Leptomeningeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Medulloblastoma +

Oropharyngeal Carcinoma +

Ovarian Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Peritoneal Mesothelioma +

Pituitary Gland Neoplasm +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. 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 4. 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.