Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Receptor tyrosine-protein kinase erbB-2
Synonyms [1]
"MLN 19", HER2, HER-2, TKR1, HER-2/neu, NEU, NGL, CD340

ERBB2 (v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2, also known as HER2 and neu) is a gene that encodes for the receptor tyrosine-protein kinase erbB-2. ERBB2 has been found to be amplified with an increased copy number in several cancers (PMID: 20185938). Amplification of ERBB2 promotes tumorigenesis and pathogenesis of several human cancers (PMID: 17471238). Recently, in breast cancer patients without ERBB2 gene amplification, activating ERBB2 mutations have also been identified (PMID: 23220880).

ERBB2 is altered in 4.98% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, bladder urothelial carcinoma, and invasive breast carcinoma having the greatest prevalence of alterations [3].

ERBB2 GENIE Cases - Top Diseases

The most common alterations in ERBB2 are ERBB2 Mutation (2.63%), ERBB2 Amplification (3.30%), ERBB2 Exon 20 Mutation (0.55%), ERBB2 Exon 20 Insertion (0.34%), and ERBB2 S310F (0.31%) [3].

ERBB2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of ERBB2 in Diseases

Breast Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Gastric Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Gastric Carcinoma +

Colorectal Carcinoma +

Esophageal Carcinoma +

Malignant Salivary Gland Neoplasm +

Malignant Esophageal Neoplasm +

Endometrial Adenocarcinoma +

Malignant Solid Tumor +

Invasive Breast Carcinoma +

Esophageal Adenocarcinoma +

Breast Adenocarcinoma +

Endometrial Carcinoma +

Urothelial Carcinoma +

Ovarian Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Pancreatic Carcinoma +

Inflammatory Breast Carcinoma +

Biliary Tract Carcinoma +

Melanoma +

Ductal Carcinoma In Situ +

Bladder Carcinoma +

Gallbladder Carcinoma +

Non-Squamous Non-Small Cell Lung Carcinoma +

Cervical Carcinoma +

Lung Adenocarcinoma +

Colorectal Adenocarcinoma +

Lung Carcinoma +

Prostate Carcinoma +

Esophageal Squamous Cell Carcinoma +

Cancer +

Bile Duct Carcinoma +

Squamous Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Extrahepatic Cholangiocarcinoma +

Malignant Endometrial Neoplasm +

Malignant Uterine Neoplasm +

Laryngeal Squamous Cell Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Cholangiocarcinoma +

Small Cell Lung Carcinoma +

Head And Neck Carcinoma +

Intrahepatic Cholangiocarcinoma +

Oral Cavity Squamous Cell Carcinoma +

Malignant Ovarian Neoplasm +

Glioblastoma +

Malignant Glioma +

Pancreatic Adenocarcinoma +

Medulloblastoma +

Lymphoma +

Renal Cell Carcinoma +

Leukemia +

Ependymoma +

Hypopharyngeal Squamous Cell Carcinoma +

Salivary Duct Carcinoma +

Salivary Gland Adenocarcinoma +

Malignant Vaginal Neoplasm +

Breast Invasive Ductal Carcinoma +

Salivary Carcinoma, NOS +

Small Intestinal Carcinoma +

Endometrial Serous Adenocarcinoma +

Primary Peritoneal Carcinoma +

Malignant Cervical Neoplasm +

Uterine Carcinosarcoma +

Uterine Corpus Carcinosarcoma +

Salivary Gland Carcinoma +

Ampulla Of Vater Carcinoma +

Malignant Urethral Neoplasm +

Carcinoma +

Digestive System Carcinoma +

Malignant Colorectal Neoplasm +

Biliary Tract Neoplasm +

Malignant Digestive System Neoplasm +

Malignant Laryngeal Neoplasm +

Salivary Gland Acinic Cell Carcinoma +

Oropharyngeal Carcinoma +

Malignant Hepatobiliary Neoplasm +

Hepatobiliary Neoplasm +

Malignant Ovarian Epithelial Tumor +

Malignant Head And Neck Neoplasm +

Neuroblastoma +

Primitive Neuroectodermal Tumor +

Lip And Oral Cavity Carcinoma +

Oral Cavity Carcinoma +

WHO Grade III Glioma +

Nasal Cavity And Paranasal Sinus Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Glioma +

Malignant Central Nervous System Neoplasm +

Central Nervous System Neoplasm +

Astrocytoma +

Thymic Carcinoma +

Liposarcoma +

Rhabdomyosarcoma +

Low Grade Glioma +

Sarcoma +

Multiple Myeloma +

Soft Tissue Sarcoma +

Prostate Adenocarcinoma +

Osteosarcoma +

Gastrointestinal Stromal Tumor +

Germ Cell Tumor +

Malignant Bone Marrow Neoplasm +

Bronchogenic Carcinoma +

Diffuse Intrinsic Pontine Glioma +

Diffuse Midline Glioma, H3 K27M-Mutant +

Fallopian Tube Carcinoma +

Gastric Squamous Cell Carcinoma +

Gliosarcoma +

Malignant Vulvar Neoplasm +

Metastatic Malignant Neoplasm In The Brain +

Nasopharyngeal Carcinoma +

Pancreatic Ductal Adenocarcinoma +

Salivary Gland Carcinoma Ex Pleomorphic Adenoma +

Salivary Gland Mucoepidermoid Carcinoma +

Salivary Gland Small Cell Carcinoma +

Salivary Gland Squamous Cell Carcinoma +

Ureter Carcinoma +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.