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

ERBB2 Mutation is present in 2.63% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, breast invasive ductal carcinoma, and breast invasive lobular carcinoma having the greatest prevalence [4].

Top Disease Cases with ERBB2 Mutation

Significance of ERBB2 Mutation in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Urothelial Carcinoma +

Gastric Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Colorectal Carcinoma +

Lung Carcinoma +

Bladder Carcinoma +

Cervical Carcinoma +

Malignant Uterine Neoplasm +

Lung Adenocarcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Melanoma +

Head And Neck Carcinoma +

Pancreatic Carcinoma +

Endometrial Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Esophageal Carcinoma +

Colorectal Adenocarcinoma +

Biliary Tract Carcinoma +

Biliary Tract Neoplasm +

Malignant Salivary Gland Neoplasm +

Salivary Gland Carcinoma +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Bile Duct Carcinoma +

Small Cell Lung Carcinoma +

Malignant Hepatobiliary Neoplasm +

Hepatobiliary Neoplasm +

Head And Neck Squamous Cell Carcinoma +

Lip And Oral Cavity Carcinoma +

Oral Cavity Carcinoma +

Oral Cavity Squamous Cell Carcinoma +

Malignant Glioma +

Ovarian Carcinoma +

Squamous Cell Lung Carcinoma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Esophageal Squamous Cell Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Astrocytoma +

Pancreatic Adenocarcinoma +

Medulloblastoma +

Thymic Carcinoma +

Rhabdomyosarcoma +

Multiple Myeloma +

Soft Tissue Sarcoma +

Primitive Neuroectodermal Tumor +

Gastrointestinal Stromal Tumor +

Neuroblastoma +

Bronchogenic Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Ependymoma +

Hypopharyngeal Squamous Cell Carcinoma +

Laryngeal Squamous Cell Carcinoma +

Malignant Laryngeal Neoplasm +

Nasopharyngeal Carcinoma +

Ureter 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.