Gene Location [1]
Receptor tyrosine kinase/growth factor signaling

EGFR Mutation is present in 5.48% of AACR GENIE cases, with lung adenocarcinoma, conventional glioblastoma multiforme, glioblastoma, colon adenocarcinoma, and non-small cell lung carcinoma having the greatest prevalence [4].

Top Disease Cases with EGFR Mutation

Significance of EGFR Mutation in Diseases

Non-Small Cell Lung Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Colorectal Carcinoma +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Small Cell Lung Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Hepatocellular Carcinoma +

Pancreatic Carcinoma +

Lung Adenocarcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Malignant Glioma +

Cancer +

Endometrial Carcinoma +

Urothelial Carcinoma +

Gastric Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Renal Cell Carcinoma +

Medulloblastoma +

Ovarian Carcinoma +

Chordoma +

Anaplastic Astrocytoma +

Astrocytoma +

Lung Neuroendocrine Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Neuroendocrine Carcinoma +

Primary Peritoneal Carcinoma +

Anaplastic Oligodendroglioma +

Laryngeal Squamous Cell Carcinoma +

Malignant Laryngeal Neoplasm +

Classical Hodgkin Lymphoma +

Esophageal Squamous Cell Carcinoma +

Low Grade Glioma +

Esophageal Carcinoma +

Gastric Adenocarcinoma +

Peritoneal Mesothelioma +

Anaplastic Oligoastrocytoma +

Chondrosarcoma +

Diffuse Intrinsic Pontine Glioma +

Undifferentiated Pleomorphic Sarcoma +

Fallopian Tube Carcinoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Oropharyngeal Carcinoma +

Hematologic And Lymphocytic Disorder +

Lip And Oral Cavity Carcinoma +

Oral Cavity Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Ovarian Carcinosarcoma +

Cholangiocarcinoma +

Uterine Carcinosarcoma +

Pecoma +

Ovarian Epithelial Tumor +

Thyroid Gland Carcinoma +

Hematopoietic And Lymphoid System Neoplasm +

Hematopoietic And Lymphoid Malignancy +

Adenocarcinoma Of The Gastroesophageal Junction +

Prostate Carcinoma +

Liposarcoma +

Histiocytic And Dendritic Cell Neoplasm +

Malignant Salivary Gland Neoplasm +

Osteosarcoma +

Gastrointestinal Stromal Tumor +

Neuroblastoma +

Rhabdomyosarcoma +

Uveal Melanoma +

Primitive Neuroectodermal Tumor +

Myeloid Neoplasm +

Meningioma +

Myelodysplastic Syndromes +

Aggressive Systemic Mastocytosis +

Anal Canal Squamous Cell Carcinoma +

Desmoid-Type Fibromatosis +

Ependymoma +

Ewing Sarcoma +

Hypopharyngeal Squamous Cell Carcinoma +

Mast Cell Leukemia +

Nasopharyngeal Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Pituitary Gland Carcinoma +

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

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +


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 8. 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.